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Gene: SLC17A8 (solute carrier family 17 member 8) Homo sapiens

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Symbol:

SLC17A8

Name:

solute carrier family 17 member 8

RGD ID:

733222

HGNC Page

HGNC:20151

Description:

Enables L-glutamate uniporter activity and sodium:phosphate symporter activity. Involved in L-glutamate transmembrane transport; neurotransmitter loading into synaptic vesicle; and phosphate ion homeostasis. Predicted to be located in several cellular components, including axon; cytoplasmic vesicle; and dendrite. Predicted to be part of chloride channel complex. Predicted to be active in excitatory synapse and synaptic vesicle membrane. Implicated in autosomal dominant nonsyndromic deafness 25.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

deafness, autosomal dominant 25; DFNA25; solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8; solute carrier family 17 (vesicular glutamate transporter), member 8; vesicular glutamate transporter 3; VGLUT3

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Slc17a8 (solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Slc17a8 (solute carrier family 17 member 8)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Slc17a8 (solute carrier family 17 member 8)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	SLC17A8 (solute carrier family 17 member 8)	NCBI	Ortholog
Canis lupus familiaris (dog):	SLC17A8 (solute carrier family 17 member 8)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Slc17a8 (solute carrier family 17 member 8)	NCBI	Ortholog
Sus scrofa (pig):	SLC17A8 (solute carrier family 17 member 8)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	SLC17A8 (solute carrier family 17 member 8)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Slc17a8 (solute carrier family 17 member 8)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Slc17a6 (solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6)	HGNC	OrthoMCL
Mus musculus (house mouse):	Slc17a7 (solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7)	HGNC	OrthoMCL
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Slc17a8 (solute carrier family 17 member 8)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Slc17a8 (solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	slc17a8 (solute carrier family 17 member 8)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	slc17a8 (solute carrier family 17 member 8)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	DAL5	Alliance	DIOPT (Ensembl Compara\|Hieranoid)
Saccharomyces cerevisiae (baker's yeast):	SOA1	Alliance	DIOPT (Ensembl Compara\|Hieranoid)
Saccharomyces cerevisiae (baker's yeast):	THI73	Alliance	DIOPT (Ensembl Compara\|Hieranoid)
Saccharomyces cerevisiae (baker's yeast):	FEN2	Alliance	DIOPT (Ensembl Compara\|Hieranoid)
Saccharomyces cerevisiae (baker's yeast):	YCT1	Alliance	DIOPT (Ensembl Compara\|Hieranoid)
Caenorhabditis elegans (roundworm):	eat-4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	VGlut	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	TNA1	Alliance	DIOPT (Ensembl Compara\|Hieranoid)
Saccharomyces cerevisiae (baker's yeast):	SEO1	Alliance	DIOPT (Ensembl Compara\|Hieranoid)
Saccharomyces cerevisiae (baker's yeast):	VHT1	Alliance	DIOPT (Ensembl Compara\|Hieranoid)
Caenorhabditis elegans (roundworm):	vglu-2	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	vglu-3	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	slc17a8	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	100,357,074 - 100,422,055 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	100,357,074 - 100,422,055 (+)	Ensembl			hg38	GRCh38
GRCh37	12	100,750,852 - 100,815,833 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	99,275,125 - 99,339,968 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	12	99,253,461 - 99,318,305	NCBI
Celera	12	100,416,121 - 100,481,106 (+)	NCBI		Celera
Cytogenetic Map	12	q23.1	NCBI
HuRef	12	97,811,908 - 97,876,895 (+)	NCBI		HuRef
CHM1_1	12	100,716,885 - 100,781,879 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	100,318,500 - 100,383,494 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autosomal dominant nonsyndromic deafness 25 (EXP,IAGP,ISS)

autosomal recessive nonsyndromic deafness 9 (IAGP)

cochlear disease (ISO)

genetic disease (IAGP)

Hyperalgesia (ISO)

Nonsyndromic Sensorineural Hearing Loss (IAGP)

Parkinsonism (ISO)

sciatic neuropathy (ISO)

transient cerebral ischemia (ISO)

trichinosis (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(1->4)-beta-D-glucan (ISO)

1,2-dichloroethane (ISO)

1,4-dioxane (ISO)

17beta-estradiol (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (ISO)

4,4'-sulfonyldiphenol (ISO)

5-bromo-2'-deoxyuridine (ISO)

6-propyl-2-thiouracil (ISO)

acetylcholine (ISO)

aflatoxin B1 (EXP)

aldehydo-D-glucose (ISO)

alpha-Zearalanol (ISO)

ammonium chloride (ISO)

arsenite(3-) (ISO)

Azoxymethane (ISO)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

chlorpyrifos (ISO)

choline (ISO)

cocaine (ISO)

D-glucose (ISO)

dextran sulfate (ISO)

diazinon (ISO)

dichloroacetic acid (ISO)

epoxiconazole (ISO)

folic acid (ISO)

fructose (ISO)

fulvestrant (EXP)

furan (ISO)

glucose (ISO)

glyphosate (ISO)

haloperidol (ISO)

herbicide (ISO)

L-methionine (ISO)

lead(0) (EXP)

maneb (ISO)

methoxychlor (ISO)

Muraglitazar (ISO)

N-nitrosodiethylamine (ISO)

ozone (ISO)

paracetamol (EXP,ISO)

paraquat (ISO)

perfluorohexanesulfonic acid (EXP)

perfluorooctane-1-sulfonic acid (EXP,ISO)

perfluorooctanoic acid (EXP,ISO)

phenethyl caffeate (ISO)

pioglitazone (ISO)

pirinixic acid (ISO)

resveratrol (EXP)

sodium arsenite (EXP,ISO)

tamoxifen (ISO)

tetrachloromethane (ISO)

Theaflavin 3,3'-digallate (EXP)

titanium dioxide (ISO)

trichloroethene (ISO)

Triptolide (ISO)

troglitazone (ISO)

valproic acid (EXP,ISO)

vinclozolin (ISO)

zidovudine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

chloride transmembrane transport (IEA)

chloride transport (IEA)

cochlea development (IEA,ISO)

L-glutamate import (IEA,ISS)

L-glutamate transmembrane transport (IDA,IEA)

monoatomic ion transmembrane transport (IEA)

monoatomic ion transport (IEA,TAS)

neural retina development (IEA,ISO)

neurotransmitter loading into synaptic vesicle (IBA,IDA,IMP)

neurotransmitter transport (IEA)

phosphate ion homeostasis (IDA)

phosphate ion transport (IEA)

positive regulation of glutamate uptake involved in transmission of nerve impulse (IEA,ISS)

regulation of acetylcholine uptake (IEA,ISS)

regulation of synapse structure or activity (IBA)

sensory perception of sound (IEA)

sodium ion transmembrane transport (IEA)

sodium ion transport (IEA)

sodium-dependent phosphate transport (IC)

synaptic transmission, glutamatergic (IBA)

transmembrane transport (IEA)

Cellular Component

apical dendrite (IEA,ISO)

axon terminus (IEA,ISO)

basal dendrite (IEA,ISO)

chloride channel complex (IEA)

cytoplasmic vesicle (IEA)

dendrite (IEA,ISO)

excitatory synapse (IBA,IEA,ISO)

glial limiting end-foot (IEA,ISO)

glutamatergic synapse (IEA)

membrane (IEA)

multivesicular body (IEA,ISO)

neuron projection (IEA)

neuronal cell body (IEA,ISO)

pericellular basket (IEA,ISO)

perikaryon (IEA,ISO)

plasma membrane (IEA)

synapse (IEA)

synaptic vesicle (IEA)

synaptic vesicle membrane (IBA,IEA,TAS)

Molecular Function

chloride channel activity (IEA,ISS)

L-glutamate transmembrane transporter activity (IBA,TAS)

L-glutamate uniporter activity (IDA,IEA,ISS)

neurotransmitter transmembrane transporter activity (IBA)

protein binding (IPI)

secondary active transmembrane transporter activity (IEA)

sodium:phosphate symporter activity (IC,IDA)

symporter activity (IEA)

transmembrane transporter activity (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

auditory mechanotransduction pathway (TAS)

glutamate signaling pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal vestibular function (IAGP)

Adult onset (IAGP)

Autosomal dominant inheritance (IAGP)

Sensorineural hearing impairment (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Up-regulation in expression of vesicular glutamate transporter 3 in substantia nigra but not in striatum of 6-hydroxydopamine-lesioned rats.	Chung EK, etal., Neurosignals. 2006-2007;15(5):238-48. Epub 2007 Apr 13.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	Glutamate co-transmission from developing medial nucleus of the trapezoid body--lateral superior olive synapses is cochlear dependent in kanamycin-treated rats.	Lee JH, etal., Biochem Biophys Res Commun. 2011 Feb 11;405(2):162-7. doi: 10.1016/j.bbrc.2010.12.129. Epub 2011 Jan 5.
4.	Age and meloxicam modify the response of the glutamate vesicular transporters (VGLUTs) after transient global cerebral ischemia in the rat brain.	Llorente IL, etal., Brain Res Bull. 2013 May;94:90-7. doi: 10.1016/j.brainresbull.2013.02.006. Epub 2013 Feb 28.
5.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
6.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
7.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
9.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10.	The auditory hair cell ribbon synapse: from assembly to function.	Safieddine S, etal., Annu Rev Neurosci. 2012;35:509-28. doi: 10.1146/annurev-neuro-061010-113705.
11.	Differential effects of natural rewards and pain on vesicular glutamate transporter expression in the nucleus accumbens.	Tukey DS, etal., Mol Brain. 2013 Jul 9;6:32. doi: 10.1186/1756-6606-6-32.
12.	Vesicular glutamate transporter-3 contributes to visceral hyperalgesia induced by Trichinella spiralis infection in rats.	Yang CQ, etal., Dig Dis Sci. 2012 Apr;57(4):865-72. doi: 10.1007/s10620-011-1970-x. Epub 2011 Dec 9.

Additional References at PubMed

PMID:11115382	PMID:12097496	PMID:12151341	PMID:12477932	PMID:15102489	PMID:16516863	PMID:16722234	PMID:17660252	PMID:18498073	PMID:18674745	PMID:20301607	PMID:21873635
PMID:23341777	PMID:26239290	PMID:26558771	PMID:26797701	PMID:28314816	PMID:28647561	PMID:29997244	PMID:32296183	PMID:32873747	PMID:33440152	PMID:33660365	PMID:33961781
PMID:34145196	PMID:36724073

Genomics

Comparative Map Data

SLC17A8
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	100,357,074 - 100,422,055 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	100,357,074 - 100,422,055 (+)	Ensembl			hg38	GRCh38
GRCh37	12	100,750,852 - 100,815,833 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	99,275,125 - 99,339,968 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	12	99,253,461 - 99,318,305	NCBI
Celera	12	100,416,121 - 100,481,106 (+)	NCBI		Celera
Cytogenetic Map	12	q23.1	NCBI
HuRef	12	97,811,908 - 97,876,895 (+)	NCBI		HuRef
CHM1_1	12	100,716,885 - 100,781,879 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	100,318,500 - 100,383,494 (+)	NCBI		T2T-CHM13v2.0

Slc17a8
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	89,409,882 - 89,457,111 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	89,409,882 - 89,457,115 (-)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	10	89,574,020 - 89,621,249 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	89,574,020 - 89,621,253 (-)	Ensembl			mm10	GRCm38
MGSCv37	10	89,036,765 - 89,083,994 (-)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	10	89,003,819 - 89,051,048 (-)	NCBI		MGSCv36	mm8
Celera	10	91,564,557 - 91,621,586 (-)	NCBI		Celera
Cytogenetic Map	10	C2	NCBI
cM Map	10	44.99	NCBI

Slc17a8
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	25,881,557 - 25,936,837 (-)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	7	25,881,557 - 25,935,410 (-)	Ensembl				GRCr8
mRatBN7.2	7	23,994,212 - 24,049,498 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	23,994,217 - 24,048,079 (-)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	7	25,988,747 - 26,042,586 (-)	NCBI	UTH_Rnor_SHR_Utx	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	28,151,175 - 28,205,018 (-)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	27,928,480 - 27,982,327 (-)	NCBI	UTH_Rnor_WKY_Bbb_1.0	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	30,215,231 - 30,274,993 (-)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	30,216,104 - 30,274,984 (-)	Ensembl			rn6	Rnor6.0
Rnor_5.0	7	30,314,804 - 30,371,888 (-)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	7	26,361,488 - 26,413,820 (-)	NCBI	RGSC_v3.4	RGSC_v3.4	rn4
Celera	7	21,139,735 - 21,191,778 (-)	NCBI		Celera
RGSC_v3.1	7	26,381,758 - 26,434,091 (-)	NCBI
Cytogenetic Map	7	q13	NCBI

Slc17a8
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955405	36,063,688 - 36,115,312 (+)	Ensembl
ChiLan1.0	NW_004955405	36,063,688 - 36,115,312 (+)	NCBI	ChiLan1.0	ChiLan1.0

SLC17A8
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	10	108,418,745 - 108,485,542 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	108,415,176 - 108,481,943 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	97,935,177 - 98,001,240 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	101,342,113 - 101,405,844 (+)	NCBI	PanPan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	101,342,113 - 101,405,844 (+)	Ensembl			panPan2	panpan1.1

SLC17A8
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	39,443,790 - 39,489,988 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	15	39,443,518 - 39,486,595 (+)	Ensembl			canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	39,811,154 - 39,867,358 (+)	NCBI	Dog10K_Boxer_Tasha	Dog10K_Boxer_Tasha
ROS_Cfam_1.0	15	40,095,889 - 40,152,069 (+)	NCBI	ROS_Cfam_1.0	ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	15	40,106,972 - 40,150,689 (+)	Ensembl				ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	15	39,364,747 - 39,409,505 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	15	39,459,835 - 39,516,030 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	15	39,733,977 - 39,790,150 (+)	NCBI	UU_Cfam_GSD_1.0	UU_Cfam_GSD_1.0

Slc17a8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	20,425,587 - 20,475,772 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936492	13,435,848 - 13,486,169 (-)	Ensembl		SpeTri2.0 Ensembl
SpeTri2.0	NW_004936492	13,436,136 - 13,486,173 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SLC17A8
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	83,741,715 - 83,800,808 (-)	Ensembl			susScr11	Sscrofa11.1
Sscrofa11.1	5	83,741,641 - 83,809,472 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	87,686,292 - 87,696,625 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SLC17A8
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	11	95,673,205 - 95,740,037 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	95,674,195 - 95,739,040 (+)	Ensembl		ChlSab1.1 Ensembl	chlSab2	Vervet-AGM
Vero_WHO_p1.0	NW_023666037	149,304,943 - 149,371,896 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Slc17a8
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624750	7,345,557 - 7,396,154 (-)	Ensembl		HetGla_female_1.0 Ensembl	hetGla2	HetGla_female_1.0 Ensembl
HetGla 1.0	NW_004624750	7,345,411 - 7,396,445 (-)	NCBI	HetGla 1.0	HetGla 1.0	hetGla2

Variants

Variants in SLC17A8
297 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_139319.3(SLC17A8):c.170C>T (p.Thr57Met)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001114670]\|not provided [RCV000522096]	Chr12:100380769 [GRCh38] Chr12:100774547 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000003256]\|not provided [RCV000724921]	Chr12:100396373 [GRCh38] Chr12:100790151 [GRCh37] Chr12:12q23.1	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_139319.3(SLC17A8):c.171G>A (p.Thr57=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000305950]\|SLC17A8-related disorder [RCV003964889]\|not provided [RCV002054804]\|not specified [RCV000041152]	Chr12:100380770 [GRCh38] Chr12:100774548 [GRCh37] Chr12:12q23.1	benign\|likely benign
NM_139319.3(SLC17A8):c.336T>C (p.Asp112=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000309472]\|not provided [RCV000893657]\|not specified [RCV000041153]	Chr12:100380935 [GRCh38] Chr12:100774713 [GRCh37] Chr12:12q23.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000336046]\|not provided [RCV000973500]\|not specified [RCV000041154]	Chr12:100357445 [GRCh38] Chr12:100751223 [GRCh37] Chr12:12q23.1	benign\|likely benign
NM_139319.3(SLC17A8):c.711G>A (p.Leu237=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000333169]\|not provided [RCV000960479]\|not specified [RCV000041155]	Chr12:100401811 [GRCh38] Chr12:100795589 [GRCh37] Chr12:12q23.1	benign\|likely benign
NM_139319.2(SLC17A8):c.1356C>T (p.Ile452=)	single nucleotide variant	Malignant melanoma [RCV000070270]	Chr12:100418087 [GRCh38] Chr12:100811865 [GRCh37] Chr12:99335996 [NCBI36] Chr12:12q23.1	not provided
NM_139319.3(SLC17A8):c.139G>C (p.Glu47Gln)	single nucleotide variant	Inborn genetic diseases [RCV003258915]\|not provided [RCV000658007]	Chr12:100380738 [GRCh38] Chr12:100774516 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.2(SLC17A8):c.101+10967A>G	single nucleotide variant	Lung cancer [RCV000110524]	Chr12:100368459 [GRCh38] Chr12:100762237 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001111387]\|not provided [RCV001697171]\|not specified [RCV000180002]	Chr12:100402434 [GRCh38] Chr12:100796212 [GRCh37] Chr12:12q23.1	benign\|likely benign\|conflicting interpretations of pathogenicity
GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	copy number gain	See cases [RCV000137891]	Chr12:97394550..101410225 [GRCh38] Chr12:97788328..101804003 [GRCh37] Chr12:96312459..100328134 [NCBI36] Chr12:12q23.1-23.2	likely pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	copy number gain	See cases [RCV000142447]	Chr12:91044318..109133210 [GRCh38] Chr12:91438095..109571015 [GRCh37] Chr12:89962226..108055398 [NCBI36] Chr12:12q21.33-24.11	pathogenic
NM_139319.3(SLC17A8):c.354+4G>C	single nucleotide variant	not specified [RCV000156192]	Chr12:100380957 [GRCh38] Chr12:100774735 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1298-14dup	duplication	not provided [RCV003764965]\|not specified [RCV000156194]	Chr12:100418011..100418012 [GRCh38] Chr12:100811789..100811790 [GRCh37] Chr12:12q23.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001113389]\|Inborn genetic diseases [RCV002515030]\|not provided [RCV000767164]\|not specified [RCV000156602]	Chr12:100418127 [GRCh38] Chr12:100811905 [GRCh37] Chr12:12q23.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_139319.3(SLC17A8):c.310G>A (p.Val104Ile)	single nucleotide variant	Inborn genetic diseases [RCV004019825]\|not provided [RCV000839952]\|not specified [RCV000151878]	Chr12:100380909 [GRCh38] Chr12:100774687 [GRCh37] Chr12:12q23.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_139319.3(SLC17A8):c.854C>T (p.Thr285Ile)	single nucleotide variant	not provided [RCV000993012]\|not specified [RCV000151881]	Chr12:100402430 [GRCh38] Chr12:100796208 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.705G>A (p.Met235Ile)	single nucleotide variant	not provided [RCV004772847]\|not specified [RCV000155276]	Chr12:100401805 [GRCh38] Chr12:100795583 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000297494]\|SLC17A8-related disorder [RCV003952783]\|not provided [RCV000948401]\|not specified [RCV000155387]	Chr12:100357414 [GRCh38] Chr12:100751192 [GRCh37] Chr12:12q23.1	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_139319.3(SLC17A8):c.355-4C>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000269634]\|not provided [RCV000965248]\|not specified [RCV000151879]	Chr12:100390997 [GRCh38] Chr12:100784775 [GRCh37] Chr12:12q23.1	benign\|likely benign
NM_139319.3(SLC17A8):c.547G>A (p.Gly183Arg)	single nucleotide variant	not specified [RCV000151880]	Chr12:100393442 [GRCh38] Chr12:100787220 [GRCh37] Chr12:12q23.1	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
NM_139319.3(SLC17A8):c.1404C>T (p.Val468=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001113390]\|not provided [RCV002517506]\|not specified [RCV000217844]	Chr12:100418135 [GRCh38] Chr12:100811913 [GRCh37] Chr12:12q23.1	likely benign\|uncertain significance
NM_139319.3(SLC17A8):c.354+16T>C	single nucleotide variant	not provided [RCV001582889]\|not specified [RCV000247233]	Chr12:100380969 [GRCh38] Chr12:100774747 [GRCh37] Chr12:12q23.1	benign\|likely benign
NM_139319.3(SLC17A8):c.*1521dup	duplication	Nonsyndromic Hearing Loss, Dominant [RCV000344089]\|not provided [RCV004693076]	Chr12:100421658..100421659 [GRCh38] Chr12:100815436..100815437 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*39A>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000345750]\|not provided [RCV001672463]	Chr12:100420198 [GRCh38] Chr12:100813976 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.1506_1507insG	insertion	Nonsyndromic Hearing Loss, Dominant [RCV000369496]	Chr12:100421665..100421666 [GRCh38] Chr12:100815443..100815444 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.*71T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000395766]\|not provided [RCV001538779]	Chr12:100420230 [GRCh38] Chr12:100814008 [GRCh37] Chr12:12q23.1	benign\|likely benign
NM_139319.3(SLC17A8):c.-32T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000396555]	Chr12:100357360 [GRCh38] Chr12:100751138 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.221A>C (p.Lys74Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000265974]\|Inborn genetic diseases [RCV002522216]	Chr12:100380820 [GRCh38] Chr12:100774598 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*507G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000371080]	Chr12:100420666 [GRCh38] Chr12:100814444 [GRCh37] Chr12:12q23.1	benign\|likely benign
NM_139319.3(SLC17A8):c.1015G>A (p.Ala339Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000285016]\|Inborn genetic diseases [RCV002520778]	Chr12:100402707 [GRCh38] Chr12:100796485 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1520_1521dup	duplication	Nonsyndromic Hearing Loss, Dominant [RCV000349941]	Chr12:100421658..100421659 [GRCh38] Chr12:100815436..100815437 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000273450]\|not provided [RCV003718169]	Chr12:100396399 [GRCh38] Chr12:100790177 [GRCh37] Chr12:12q23.1	likely benign\|uncertain significance
NM_139319.3(SLC17A8):c.1513_1521del	deletion	Nonsyndromic Hearing Loss, Dominant [RCV000290335]\|not provided [RCV004693077]	Chr12:100421659..100421667 [GRCh38] Chr12:100815437..100815445 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*178G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000310413]	Chr12:100420337 [GRCh38] Chr12:100814115 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*534T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000276542]	Chr12:100420693 [GRCh38] Chr12:100814471 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.-218T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000293734]\|not provided [RCV001672462]	Chr12:100357174 [GRCh38] Chr12:100750952 [GRCh37] Chr12:12q23.1	benign\|likely benign
NM_139319.3(SLC17A8):c.-88A>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000337331]	Chr12:100357304 [GRCh38] Chr12:100751082 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.913A>G (p.Thr305Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000338898]	Chr12:100402605 [GRCh38] Chr12:100796383 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.723G>A (p.Leu241=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000387621]\|SLC17A8-related disorder [RCV003957589]\|not provided [RCV000886186]	Chr12:100401823 [GRCh38] Chr12:100795601 [GRCh37] Chr12:12q23.1	benign\|likely benign
NM_139319.3(SLC17A8):c.762T>C (p.Tyr254=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000279136]	Chr12:100401862 [GRCh38] Chr12:100795640 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*1486A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000282829]	Chr12:100421645 [GRCh38] Chr12:100815423 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*817A>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000371762]	Chr12:100420976 [GRCh38] Chr12:100814754 [GRCh37] Chr12:12q23.1	benign\|likely benign
NM_139319.3(SLC17A8):c.530C>T (p.Ala177Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000327044]	Chr12:100393425 [GRCh38] Chr12:100787203 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000398240]\|not provided [RCV001799651]	Chr12:100380717 [GRCh38] Chr12:100774495 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*1140T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000263100]	Chr12:100421299 [GRCh38] Chr12:100815077 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*335C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000275154]	Chr12:100420494 [GRCh38] Chr12:100814272 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.584T>C (p.Val195Ala)	single nucleotide variant	not provided [RCV000393723]	Chr12:100393479 [GRCh38] Chr12:100787257 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.210C>T (p.Cys70=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000358240]\|not provided [RCV002056253]	Chr12:100380809 [GRCh38] Chr12:100774587 [GRCh37] Chr12:12q23.1	likely benign\|uncertain significance
NM_139319.3(SLC17A8):c.1690G>C (p.Gly564Arg)	single nucleotide variant	not provided [RCV000397167]	Chr12:100420079 [GRCh38] Chr12:100813857 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1016C>A (p.Ala339Asp)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000339831]\|Inborn genetic diseases [RCV004021529]	Chr12:100402708 [GRCh38] Chr12:100796486 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000388650]\|Inborn genetic diseases [RCV004965392]\|not provided [RCV000734057]\|not specified [RCV003235185]	Chr12:100396379 [GRCh38] Chr12:100790157 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*1295T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000318288]	Chr12:100421454 [GRCh38] Chr12:100815232 [GRCh37] Chr12:12q23.1	benign\|likely benign
NM_139319.3(SLC17A8):c.1736A>T (p.Gln579Leu)	single nucleotide variant	not provided [RCV003159342]	Chr12:100420125 [GRCh38] Chr12:100813903 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.532G>A (p.Ala178Thr)	single nucleotide variant	not provided [RCV001548328]	Chr12:100393427 [GRCh38] Chr12:100787205 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000490397]\|SLC17A8-related disorder [RCV003955246]\|not provided [RCV001711988]	Chr12:100404104 [GRCh38] Chr12:100797882 [GRCh37] Chr12:12q23.1	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_139319.3(SLC17A8):c.*1502T>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000314757]	Chr12:100421661 [GRCh38] Chr12:100815439 [GRCh37] Chr12:12q23.1	uncertain significance
NC_000012.12:g.100422072T>A	single nucleotide variant	Nonsyndromic Hearing Loss, Dominant [RCV000323944]\|not provided [RCV004705505]	Chr12:100422072 [GRCh38] Chr12:100815850 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1631AGA[1] (p.Lys545del)	microsatellite	Nonsyndromic Hearing Loss, Dominant [RCV000304875]\|SLC17A8-related disorder [RCV003957590]\|not provided [RCV001570770]	Chr12:100420019..100420021 [GRCh38] Chr12:100813797..100813799 [GRCh37] Chr12:12q23.1	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_139319.3(SLC17A8):c.*715A>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000317565]	Chr12:100420874 [GRCh38] Chr12:100814652 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*244G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000365060]	Chr12:100420403 [GRCh38] Chr12:100814181 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.354+7A>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000366431]	Chr12:100380960 [GRCh38] Chr12:100774738 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1253C>T (p.Ser418Phe)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000390800]	Chr12:100412836 [GRCh38] Chr12:100806614 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1496_1497insT	insertion	Nonsyndromic Hearing Loss, Dominant [RCV000323840]	Chr12:100421655..100421656 [GRCh38] Chr12:100815433..100815434 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.958A>G (p.Ile320Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000374723]	Chr12:100402650 [GRCh38] Chr12:100796428 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1498_1499insTT	insertion	Nonsyndromic Hearing Loss, Dominant [RCV000288640]	Chr12:100421656..100421657 [GRCh38] Chr12:100815434..100815435 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*357A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000311699]	Chr12:100420516 [GRCh38] Chr12:100814294 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*1716C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000301086]	Chr12:100421875 [GRCh38] Chr12:100815653 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*1306C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000377612]	Chr12:100421465 [GRCh38] Chr12:100815243 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*1498dup	duplication	Nonsyndromic Hearing Loss, Dominant [RCV000378397]	Chr12:100421656..100421657 [GRCh38] Chr12:100815434..100815435 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*1587A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000396375]	Chr12:100421746 [GRCh38] Chr12:100815524 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1501_1502insGT	insertion	Nonsyndromic Hearing Loss, Dominant [RCV000396379]	Chr12:100421659..100421660 [GRCh38] Chr12:100815437..100815438 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.552C>T (p.Cys184=)	single nucleotide variant	not provided [RCV000592802]	Chr12:100393447 [GRCh38] Chr12:100787225 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.354+230A>T	single nucleotide variant	not provided [RCV001545207]	Chr12:100381183 [GRCh38] Chr12:100774961 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1559G>T (p.Cys520Phe)	single nucleotide variant	not provided [RCV000730845]	Chr12:100419948 [GRCh38] Chr12:100813726 [GRCh37] Chr12:12q23.1	uncertain significance
GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)x3	copy number gain	See cases [RCV000445929]	Chr12:100580198..105804075 [GRCh37] Chr12:12q23.1-23.3	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12q23.1-23.2(chr12:100667424-101651880)x3	copy number gain	See cases [RCV000510816]	Chr12:100667424..101651880 [GRCh37] Chr12:12q23.1-23.2	uncertain significance
NM_139319.3(SLC17A8):c.1578C>T (p.Asp526=)	single nucleotide variant	not provided [RCV000594299]	Chr12:100419967 [GRCh38] Chr12:100813745 [GRCh37] Chr12:12q23.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_139319.3(SLC17A8):c.1015_1016delinsAA (p.Ala339Asn)	indel	not provided [RCV000595650]	Chr12:100402707..100402708 [GRCh38] Chr12:100796485..100796486 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.232A>G (p.Ile78Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV002498939]\|not provided [RCV001698116]	Chr12:100380831 [GRCh38] Chr12:100774609 [GRCh37] Chr12:12q23.1	likely benign
GRCh37/hg19 12q23.1(chr12:99725136-100857873)x3	copy number gain	not provided [RCV000683458]	Chr12:99725136..100857873 [GRCh37] Chr12:12q23.1	uncertain significance
GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3	copy number gain	not provided [RCV000683473]	Chr12:96719383..101537641 [GRCh37] Chr12:12q23.1	likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12q22-23.2(chr12:94881995-103635998)x3	copy number gain	not provided [RCV000750524]	Chr12:94881995..103635998 [GRCh37] Chr12:12q22-23.2	pathogenic
NM_139319.3(SLC17A8):c.1187-159del	deletion	not provided [RCV001679117]	Chr12:100412593 [GRCh38] Chr12:100806371 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.1187-127dup	duplication	not provided [RCV001708322]	Chr12:100412633..100412634 [GRCh38] Chr12:100806411..100806412 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.1445A>C (p.Asn482Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001114780]	Chr12:100419834 [GRCh38] Chr12:100813612 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1645G>A (p.Gly549Arg)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001114782]\|not provided [RCV001729796]	Chr12:100420034 [GRCh38] Chr12:100813812 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.589-22C>T	single nucleotide variant	not provided [RCV001665277]	Chr12:100396308 [GRCh38] Chr12:100790086 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1128T>C (p.Tyr376=)	single nucleotide variant	not provided [RCV000924622]	Chr12:100404112 [GRCh38] Chr12:100797890 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.903+1G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV000779086]	Chr12:100402480 [GRCh38] Chr12:100796258 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1299T>A (p.Gly433=)	single nucleotide variant	not provided [RCV000973501]	Chr12:100418030 [GRCh38] Chr12:100811808 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1362C>T (p.Asn454=)	single nucleotide variant	not provided [RCV000841839]	Chr12:100418093 [GRCh38] Chr12:100811871 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.764-49C>T	single nucleotide variant	not provided [RCV000844337]	Chr12:100402291 [GRCh38] Chr12:100796069 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.109G>A (p.Asp37Asn)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001114667]\|Inborn genetic diseases [RCV004960466]\|not provided [RCV001759880]	Chr12:100380708 [GRCh38] Chr12:100774486 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*1839A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001114896]	Chr12:100421998 [GRCh38] Chr12:100815776 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.389G>A (p.Gly130Asp)	single nucleotide variant	not provided [RCV000919032]	Chr12:100391035 [GRCh38] Chr12:100784813 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1054-46C>G	single nucleotide variant	not provided [RCV000844338]	Chr12:100403992 [GRCh38] Chr12:100797770 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.398A>G (p.His133Arg)	single nucleotide variant	not provided [RCV003315052]	Chr12:100391044 [GRCh38] Chr12:100784822 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*1883T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001114897]	Chr12:100422042 [GRCh38] Chr12:100815820 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.27_30del (p.Phe9fs)	deletion	not provided [RCV001008941]	Chr12:100357418..100357421 [GRCh38] Chr12:100751196..100751199 [GRCh37] Chr12:12q23.1	likely pathogenic
GRCh37/hg19 12q23.1(chr12:100815231-100990942)x1	copy number loss	not provided [RCV001006524]	Chr12:100815231..100990942 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*1223T>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001113484]	Chr12:100421382 [GRCh38] Chr12:100815160 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.110A>G (p.Asp37Gly)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001114668]	Chr12:100380709 [GRCh38] Chr12:100774487 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.124G>A (p.Glu42Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001114669]	Chr12:100380723 [GRCh38] Chr12:100774501 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.766A>C (p.Met256Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001111386]\|Inborn genetic diseases [RCV005278735]\|not provided [RCV001772327]	Chr12:100402342 [GRCh38] Chr12:100796120 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*542G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001111492]	Chr12:100420701 [GRCh38] Chr12:100814479 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*1077A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001111494]	Chr12:100421236 [GRCh38] Chr12:100815014 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.566G>A (p.Arg189Lys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001109039]	Chr12:100393461 [GRCh38] Chr12:100787239 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.687A>C (p.Ala229=)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001109040]\|not provided [RCV002556131]	Chr12:100401787 [GRCh38] Chr12:100795565 [GRCh37] Chr12:12q23.1	likely benign\|uncertain significance
NM_139319.3(SLC17A8):c.*473T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001109148]	Chr12:100420632 [GRCh38] Chr12:100814410 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.*480C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001109149]	Chr12:100420639 [GRCh38] Chr12:100814417 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1095C>T (p.Ile365=)	single nucleotide variant	SLC17A8-related disorder [RCV003973756]\|not provided [RCV003106508]	Chr12:100404079 [GRCh38] Chr12:100797857 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.889G>A (p.Val297Met)	single nucleotide variant	not provided [RCV004776771]	Chr12:100402465 [GRCh38] Chr12:100796243 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1187-10C>T	single nucleotide variant	SLC17A8-related disorder [RCV003910869]\|not provided [RCV001549882]	Chr12:100412760 [GRCh38] Chr12:100806538 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.473+34A>G	single nucleotide variant	not provided [RCV001564303]	Chr12:100391153 [GRCh38] Chr12:100784931 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.588+192T>C	single nucleotide variant	not provided [RCV001550527]	Chr12:100393675 [GRCh38] Chr12:100787453 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1426-269dup	duplication	not provided [RCV001545329]	Chr12:100419532..100419533 [GRCh38] Chr12:100813310..100813311 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.474-197C>T	single nucleotide variant	not provided [RCV001695244]	Chr12:100393172 [GRCh38] Chr12:100786950 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.589-256T>C	single nucleotide variant	not provided [RCV001720883]	Chr12:100396074 [GRCh38] Chr12:100789852 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.1426-106A>G	single nucleotide variant	not provided [RCV001716891]	Chr12:100419709 [GRCh38] Chr12:100813487 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.1426-325G>A	single nucleotide variant	not provided [RCV001583567]	Chr12:100419490 [GRCh38] Chr12:100813268 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.17T>C (p.Phe6Ser)	single nucleotide variant	Inborn genetic diseases [RCV004968225]\|not provided [RCV001588586]	Chr12:100357408 [GRCh38] Chr12:100751186 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.676+183del	deletion	not provided [RCV001588653]	Chr12:100396584 [GRCh38] Chr12:100790362 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.*6G>C	single nucleotide variant	SLC17A8-related disorder [RCV003910882]\|not provided [RCV001560874]	Chr12:100420165 [GRCh38] Chr12:100813943 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.589-173G>A	single nucleotide variant	not provided [RCV001557281]	Chr12:100396157 [GRCh38] Chr12:100789935 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.237T>C (p.Ala79=)	single nucleotide variant	not provided [RCV001577661]	Chr12:100380836 [GRCh38] Chr12:100774614 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1298-42T>G	single nucleotide variant	not provided [RCV001557675]	Chr12:100417987 [GRCh38] Chr12:100811765 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1689del (p.Gly564fs)	deletion	not provided [RCV001557781]	Chr12:100420076 [GRCh38] Chr12:100813854 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.473+329G>A	single nucleotide variant	not provided [RCV001587664]	Chr12:100391448 [GRCh38] Chr12:100785226 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1298-58A>C	single nucleotide variant	not provided [RCV001617498]	Chr12:100417971 [GRCh38] Chr12:100811749 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.677-244A>G	single nucleotide variant	not provided [RCV001618893]	Chr12:100401533 [GRCh38] Chr12:100795311 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.102-24C>A	single nucleotide variant	not provided [RCV001678008]	Chr12:100380677 [GRCh38] Chr12:100774455 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.1426-100C>T	single nucleotide variant	not provided [RCV001588085]	Chr12:100419715 [GRCh38] Chr12:100813493 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.142C>T (p.Leu48=)	single nucleotide variant	not provided [RCV000906494]	Chr12:100380741 [GRCh38] Chr12:100774519 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.*209T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001114783]	Chr12:100420368 [GRCh38] Chr12:100814146 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.676+183dup	duplication	not provided [RCV001530737]	Chr12:100396583..100396584 [GRCh38] Chr12:100790361..100790362 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.356C>G (p.Thr119Arg)	single nucleotide variant	not provided [RCV002469876]	Chr12:100391002 [GRCh38] Chr12:100784780 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.223C>T (p.Arg75Cys)	single nucleotide variant	Auditory neuropathy spectrum disorder [RCV003984870]\|not provided [RCV003234257]	Chr12:100380822 [GRCh38] Chr12:100774600 [GRCh37] Chr12:12q23.1	pathogenic\|uncertain significance
NM_139319.3(SLC17A8):c.1178A>G (p.Asn393Ser)	single nucleotide variant	not provided [RCV003230203]	Chr12:100404162 [GRCh38] Chr12:100797940 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1426-269del	deletion	not provided [RCV001556461]	Chr12:100419533 [GRCh38] Chr12:100813311 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1187-258G>A	single nucleotide variant	not provided [RCV001536426]	Chr12:100412512 [GRCh38] Chr12:100806290 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.589-278G>C	single nucleotide variant	not provided [RCV001589535]	Chr12:100396052 [GRCh38] Chr12:100789830 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1425+23T>C	single nucleotide variant	not provided [RCV001616103]	Chr12:100418179 [GRCh38] Chr12:100811957 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.677-281C>T	single nucleotide variant	not provided [RCV001720888]	Chr12:100401496 [GRCh38] Chr12:100795274 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.1054-331A>G	single nucleotide variant	not provided [RCV001596000]	Chr12:100403707 [GRCh38] Chr12:100797485 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.354+173C>G	single nucleotide variant	not provided [RCV001614935]	Chr12:100381126 [GRCh38] Chr12:100774904 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.763+58A>G	single nucleotide variant	not provided [RCV001649693]	Chr12:100401921 [GRCh38] Chr12:100795699 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.903+5G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001111388]	Chr12:100402484 [GRCh38] Chr12:100796262 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*541G>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001111491]	Chr12:100420700 [GRCh38] Chr12:100814478 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*671C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001111493]	Chr12:100420830 [GRCh38] Chr12:100814608 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*1090A>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001111495]	Chr12:100421249 [GRCh38] Chr12:100815027 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.*540A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001109150]	Chr12:100420699 [GRCh38] Chr12:100814477 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.-246T>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001113301]\|not provided [RCV004704407]	Chr12:100357146 [GRCh38] Chr12:100750924 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.-72A>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001113303]	Chr12:100357320 [GRCh38] Chr12:100751098 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.*1243A>C	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001113485]	Chr12:100421402 [GRCh38] Chr12:100815180 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.-311G>A	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001111288]	Chr12:100357081 [GRCh38] Chr12:100750859 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.-295C>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001111289]	Chr12:100357097 [GRCh38] Chr12:100750875 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1187-159dup	duplication	not provided [RCV001682535]	Chr12:100412592..100412593 [GRCh38] Chr12:100806370..100806371 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.763+153A>G	single nucleotide variant	not provided [RCV001709817]	Chr12:100402016 [GRCh38] Chr12:100795794 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.1298-80C>T	single nucleotide variant	not provided [RCV001710881]	Chr12:100417949 [GRCh38] Chr12:100811727 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.676+110T>A	single nucleotide variant	not provided [RCV001546305]	Chr12:100396527 [GRCh38] Chr12:100790305 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.474-300G>A	single nucleotide variant	not provided [RCV001537240]	Chr12:100393069 [GRCh38] Chr12:100786847 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.354+177CATCTCAG[4]	microsatellite	not provided [RCV001645594]	Chr12:100381130..100381137 [GRCh38] Chr12:100774908..100774915 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.-93A>G	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001113302]	Chr12:100357299 [GRCh38] Chr12:100751077 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1106T>C (p.Ile369Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001113387]\|Inborn genetic diseases [RCV003283981]	Chr12:100404090 [GRCh38] Chr12:100797868 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1331G>T (p.Arg444Leu)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001113388]	Chr12:100418062 [GRCh38] Chr12:100811840 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1430G>A (p.Arg477His)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001114779]\|Inborn genetic diseases [RCV003283983]	Chr12:100419819 [GRCh38] Chr12:100813597 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1619C>T (p.Ala540Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001114781]	Chr12:100420008 [GRCh38] Chr12:100813786 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.15A>G (p.Ala5=)	single nucleotide variant	not provided [RCV001580861]	Chr12:100357406 [GRCh38] Chr12:100751184 [GRCh37] Chr12:12q23.1	benign\|likely benign
NM_139319.3(SLC17A8):c.83C>A (p.Ser28Tyr)	single nucleotide variant	not specified [RCV004783475]	Chr12:100357474 [GRCh38] Chr12:100751252 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.474-52T>C	single nucleotide variant	not provided [RCV001536899]	Chr12:100393317 [GRCh38] Chr12:100787095 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.1262T>C (p.Val421Ala)	single nucleotide variant	not provided [RCV002284620]	Chr12:100412845 [GRCh38] Chr12:100806623 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.616dup (p.Met206fs)	duplication	Autosomal dominant nonsyndromic hearing loss 25 [RCV001391305]	Chr12:100396356..100396357 [GRCh38] Chr12:100790134..100790135 [GRCh37] Chr12:12q23.1	pathogenic
NM_139319.3(SLC17A8):c.588+208T>C	single nucleotide variant	not provided [RCV001534292]	Chr12:100393691 [GRCh38] Chr12:100787469 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.102-310A>G	single nucleotide variant	not provided [RCV001610989]	Chr12:100380391 [GRCh38] Chr12:100774169 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.1187-127del	deletion	not provided [RCV001581859]	Chr12:100412634 [GRCh38] Chr12:100806412 [GRCh37] Chr12:12q23.1	likely benign
NC_000012.12:g.100356902C>A	single nucleotide variant	not provided [RCV001583462]	Chr12:100356902 [GRCh38] Chr12:100750680 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.473+2T>C	single nucleotide variant	not provided [RCV001540728]	Chr12:100391121 [GRCh38] Chr12:100784899 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1187-45C>T	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001807421]\|not provided [RCV001538544]	Chr12:100412725 [GRCh38] Chr12:100806503 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.243G>A (p.Met81Ile)	single nucleotide variant	not provided [RCV002248267]	Chr12:100380842 [GRCh38] Chr12:100774620 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.224G>A (p.Arg75His)	single nucleotide variant	not provided [RCV001754756]	Chr12:100380823 [GRCh38] Chr12:100774601 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.200G>A (p.Cys67Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004047404]\|not provided [RCV002259445]	Chr12:100380799 [GRCh38] Chr12:100774577 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.196G>A (p.Asp66Asn)	single nucleotide variant	not provided [RCV001760984]	Chr12:100380795 [GRCh38] Chr12:100774573 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.959T>C (p.Ile320Thr)	single nucleotide variant	not provided [RCV001751932]	Chr12:100402651 [GRCh38] Chr12:100796429 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.842A>G (p.Asn281Ser)	single nucleotide variant	not provided [RCV001768840]	Chr12:100402418 [GRCh38] Chr12:100796196 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1213C>G (p.Leu405Val)	single nucleotide variant	not provided [RCV001774340]	Chr12:100412796 [GRCh38] Chr12:100806574 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV001799521]	Chr12:100396375 [GRCh38] Chr12:100790153 [GRCh37] Chr12:12q23.1	likely pathogenic
NM_139319.3(SLC17A8):c.547G>C (p.Gly183Arg)	single nucleotide variant	not provided [RCV001757275]	Chr12:100393442 [GRCh38] Chr12:100787220 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1493A>G (p.Tyr498Cys)	single nucleotide variant	not provided [RCV001758832]	Chr12:100419882 [GRCh38] Chr12:100813660 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1157C>T (p.Thr386Ile)	single nucleotide variant	not provided [RCV001779673]	Chr12:100404141 [GRCh38] Chr12:100797919 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.485C>T (p.Ala162Val)	single nucleotide variant	not provided [RCV001914952]	Chr12:100393380 [GRCh38] Chr12:100787158 [GRCh37] Chr12:12q23.1	uncertain significance
GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	copy number gain	not specified [RCV002053014]	Chr12:100580198..105804075 [GRCh37] Chr12:12q23.1-23.3	uncertain significance
NM_139319.3(SLC17A8):c.737G>C (p.Gly246Ala)	single nucleotide variant	not provided [RCV001823403]	Chr12:100401837 [GRCh38] Chr12:100795615 [GRCh37] Chr12:12q23.1	uncertain significance
GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	copy number loss	not specified [RCV002053013]	Chr12:100564593..103021075 [GRCh37] Chr12:12q23.1-23.2	uncertain significance
NM_139319.3(SLC17A8):c.1330C>T (p.Arg444Cys)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV002479430]\|not provided [RCV001914176]	Chr12:100418061 [GRCh38] Chr12:100811839 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1321A>G (p.Ile441Val)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV003136322]\|not provided [RCV001926955]	Chr12:100418052 [GRCh38] Chr12:100811830 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1615T>G (p.Phe539Val)	single nucleotide variant	not provided [RCV001908244]	Chr12:100420004 [GRCh38] Chr12:100813782 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1297+4dup	duplication	not provided [RCV001887182]	Chr12:100412882..100412883 [GRCh38] Chr12:100806660..100806661 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.29A>G (p.Lys10Arg)	single nucleotide variant	Inborn genetic diseases [RCV004045512]\|not provided [RCV001992151]	Chr12:100357420 [GRCh38] Chr12:100751198 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1242_1243del (p.Val415fs)	deletion	not provided [RCV002029810]	Chr12:100412823..100412824 [GRCh38] Chr12:100806601..100806602 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.161C>T (p.Pro54Leu)	single nucleotide variant	not provided [RCV001957682]	Chr12:100380760 [GRCh38] Chr12:100774538 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1264C>T (p.Leu422Phe)	single nucleotide variant	Inborn genetic diseases [RCV004953240]\|not provided [RCV001879298]	Chr12:100412847 [GRCh38] Chr12:100806625 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1097T>C (p.Val366Ala)	single nucleotide variant	not provided [RCV001877188]	Chr12:100404081 [GRCh38] Chr12:100797859 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.473+16A>G	single nucleotide variant	not provided [RCV002013448]	Chr12:100391135 [GRCh38] Chr12:100784913 [GRCh37] Chr12:12q23.1	likely benign\|uncertain significance
NM_139319.3(SLC17A8):c.1537G>A (p.Glu513Lys)	single nucleotide variant	SLC17A8-related disorder [RCV003971110]\|not provided [RCV002148934]\|not specified [RCV005239296]	Chr12:100419926 [GRCh38] Chr12:100813704 [GRCh37] Chr12:12q23.1	likely benign\|uncertain significance
NM_139319.3(SLC17A8):c.473+13G>A	single nucleotide variant	not provided [RCV002146523]	Chr12:100391132 [GRCh38] Chr12:100784910 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.473+17T>C	single nucleotide variant	not provided [RCV002126347]	Chr12:100391136 [GRCh38] Chr12:100784914 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.102-18A>G	single nucleotide variant	not provided [RCV002138131]	Chr12:100380683 [GRCh38] Chr12:100774461 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1425+11C>A	single nucleotide variant	not provided [RCV002143103]	Chr12:100418167 [GRCh38] Chr12:100811945 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.474-3dup	duplication	not provided [RCV002204318]	Chr12:100393361..100393362 [GRCh38] Chr12:100787139..100787140 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.27C>T (p.Phe9=)	single nucleotide variant	not provided [RCV002102370]	Chr12:100357418 [GRCh38] Chr12:100751196 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.211G>A (p.Gly71Ser)	single nucleotide variant	not provided [RCV003123224]	Chr12:100380810 [GRCh38] Chr12:100774588 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.284A>G (p.Asn95Ser)	single nucleotide variant	not provided [RCV004787437]	Chr12:100380883 [GRCh38] Chr12:100774661 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.664A>T (p.Thr222Ser)	single nucleotide variant	not provided [RCV002273684]	Chr12:100396405 [GRCh38] Chr12:100790183 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.886A>T (p.Asn296Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003282634]	Chr12:100402462 [GRCh38] Chr12:100796240 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1187-3C>T	single nucleotide variant	not provided [RCV002464940]	Chr12:100412767 [GRCh38] Chr12:100806545 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.43A>T (p.Lys15Ter)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV004585132]	Chr12:100357434 [GRCh38] Chr12:100751212 [GRCh37] Chr12:12q23.1	pathogenic
NM_139319.3(SLC17A8):c.356C>T (p.Thr119Ile)	single nucleotide variant	not provided [RCV002305891]	Chr12:100391002 [GRCh38] Chr12:100784780 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1666G>A (p.Glu556Lys)	single nucleotide variant	Inborn genetic diseases [RCV002752150]	Chr12:100420055 [GRCh38] Chr12:100813833 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.591T>C (p.Gly197=)	single nucleotide variant	not provided [RCV003013833]	Chr12:100396332 [GRCh38] Chr12:100790110 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1298-5T>A	single nucleotide variant	not provided [RCV002511741]	Chr12:100418024 [GRCh38] Chr12:100811802 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.766A>T (p.Met256Leu)	single nucleotide variant	not provided [RCV002820116]	Chr12:100402342 [GRCh38] Chr12:100796120 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.676+3G>A	single nucleotide variant	not provided [RCV002617702]	Chr12:100396420 [GRCh38] Chr12:100790198 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1298-17T>A	single nucleotide variant	not provided [RCV002771295]	Chr12:100418012 [GRCh38] Chr12:100811790 [GRCh37] Chr12:12q23.1	benign
NM_139319.3(SLC17A8):c.1385T>C (p.Met462Thr)	single nucleotide variant	Inborn genetic diseases [RCV002777637]	Chr12:100418116 [GRCh38] Chr12:100811894 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.797T>C (p.Leu266Pro)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV004821427]	Chr12:100402373 [GRCh38] Chr12:100796151 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.635C>G (p.Pro212Arg)	single nucleotide variant	Inborn genetic diseases [RCV002736955]	Chr12:100396376 [GRCh38] Chr12:100790154 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1662T>C (p.Asn554=)	single nucleotide variant	not provided [RCV002867401]	Chr12:100420051 [GRCh38] Chr12:100813829 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1429C>T (p.Arg477Cys)	single nucleotide variant	Inborn genetic diseases [RCV002758568]\|not provided [RCV005099170]	Chr12:100419818 [GRCh38] Chr12:100813596 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1211T>C (p.Leu404Pro)	single nucleotide variant	SLC17A8-related disorder [RCV003953917]\|not provided [RCV002619367]	Chr12:100412794 [GRCh38] Chr12:100806572 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1220T>C (p.Val407Ala)	single nucleotide variant	not provided [RCV002735134]	Chr12:100412803 [GRCh38] Chr12:100806581 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1304A>G (p.Asn435Ser)	single nucleotide variant	Inborn genetic diseases [RCV002868915]	Chr12:100418035 [GRCh38] Chr12:100811813 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.81T>G (p.Asp27Glu)	single nucleotide variant	Inborn genetic diseases [RCV002821236]	Chr12:100357472 [GRCh38] Chr12:100751250 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.474-14C>A	single nucleotide variant	not provided [RCV002790896]	Chr12:100393355 [GRCh38] Chr12:100787133 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1054-1G>C	single nucleotide variant	not provided [RCV002626435]	Chr12:100404037 [GRCh38] Chr12:100797815 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.331G>A (p.Val111Ile)	single nucleotide variant	not provided [RCV002623895]	Chr12:100380930 [GRCh38] Chr12:100774708 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.183C>G (p.Ser61Arg)	single nucleotide variant	not provided [RCV002623716]\|not specified [RCV003331440]	Chr12:100380782 [GRCh38] Chr12:100774560 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.765C>T (p.Gly255=)	single nucleotide variant	SLC17A8-related disorder [RCV003916553]\|not provided [RCV002893853]	Chr12:100402341 [GRCh38] Chr12:100796119 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.443G>C (p.Gly148Ala)	single nucleotide variant	not provided [RCV002835114]	Chr12:100391089 [GRCh38] Chr12:100784867 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.676+9A>G	single nucleotide variant	not provided [RCV002835049]	Chr12:100396426 [GRCh38] Chr12:100790204 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1353G>C (p.Gly451=)	single nucleotide variant	not provided [RCV002966371]	Chr12:100418084 [GRCh38] Chr12:100811862 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1229C>T (p.Ser410Leu)	single nucleotide variant	Inborn genetic diseases [RCV002942576]\|not provided [RCV002938994]	Chr12:100412812 [GRCh38] Chr12:100806590 [GRCh37] Chr12:12q23.1	likely benign\|uncertain significance
NM_139319.3(SLC17A8):c.677-18_677-15del	deletion	not provided [RCV002581515]	Chr12:100401757..100401760 [GRCh38] Chr12:100795535..100795538 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.223C>A (p.Arg75Ser)	single nucleotide variant	Inborn genetic diseases [RCV002679058]	Chr12:100380822 [GRCh38] Chr12:100774600 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1426-18C>A	single nucleotide variant	not provided [RCV002608372]\|not specified [RCV003155484]	Chr12:100419797 [GRCh38] Chr12:100813575 [GRCh37] Chr12:12q23.1	likely benign\|uncertain significance
NM_139319.3(SLC17A8):c.944C>T (p.Pro315Leu)	single nucleotide variant	not provided [RCV002606277]	Chr12:100402636 [GRCh38] Chr12:100796414 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1053+8C>T	single nucleotide variant	not provided [RCV002610545]	Chr12:100402753 [GRCh38] Chr12:100796531 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.188C>G (p.Pro63Arg)	single nucleotide variant	not provided [RCV002588158]	Chr12:100380787 [GRCh38] Chr12:100774565 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.349A>G (p.Ile117Val)	single nucleotide variant	Inborn genetic diseases [RCV003280802]	Chr12:100380948 [GRCh38] Chr12:100774726 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.764-6C>G	single nucleotide variant	not provided [RCV004777053]	Chr12:100402334 [GRCh38] Chr12:100796112 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1486A>T (p.Ile496Phe)	single nucleotide variant	Inborn genetic diseases [RCV003279895]	Chr12:100419875 [GRCh38] Chr12:100813653 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1327C>G (p.Pro443Ala)	single nucleotide variant	Inborn genetic diseases [RCV003200750]	Chr12:100418058 [GRCh38] Chr12:100811836 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.832A>G (p.Thr278Ala)	single nucleotide variant	Inborn genetic diseases [RCV003286883]	Chr12:100402408 [GRCh38] Chr12:100796186 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.320G>A (p.Ser107Asn)	single nucleotide variant	Inborn genetic diseases [RCV003204062]	Chr12:100380919 [GRCh38] Chr12:100774697 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1744G>A (p.Glu582Lys)	single nucleotide variant	Inborn genetic diseases [RCV003207410]	Chr12:100420133 [GRCh38] Chr12:100813911 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.344C>T (p.Pro115Leu)	single nucleotide variant	Inborn genetic diseases [RCV003206061]\|not provided [RCV003779725]	Chr12:100380943 [GRCh38] Chr12:100774721 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.285T>A (p.Asn95Lys)	single nucleotide variant	Inborn genetic diseases [RCV003372317]	Chr12:100380884 [GRCh38] Chr12:100774662 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.733A>G (p.Ile245Val)	single nucleotide variant	Inborn genetic diseases [RCV003377059]	Chr12:100401833 [GRCh38] Chr12:100795611 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.573G>T (p.Leu191=)	single nucleotide variant	not provided [RCV003390282]	Chr12:100393468 [GRCh38] Chr12:100787246 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1565T>G (p.Ile522Ser)	single nucleotide variant	not provided [RCV003390283]	Chr12:100419954 [GRCh38] Chr12:100813732 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1151C>T (p.Thr384Ile)	single nucleotide variant	SLC17A8-related disorder [RCV003422479]	Chr12:100404135 [GRCh38] Chr12:100797913 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.504G>A (p.Ser168=)	single nucleotide variant	not provided [RCV003391953]	Chr12:100393399 [GRCh38] Chr12:100787177 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1328dup (p.Arg444fs)	duplication	Autosomal dominant nonsyndromic hearing loss 25 [RCV003455818]\|not provided [RCV003443710]	Chr12:100418055..100418056 [GRCh38] Chr12:100811833..100811834 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.743C>T (p.Ser248Phe)	single nucleotide variant	not provided [RCV003443942]	Chr12:100401843 [GRCh38] Chr12:100795621 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1298-4G>A	single nucleotide variant	not provided [RCV003739926]	Chr12:100418025 [GRCh38] Chr12:100811803 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.162G>A (p.Pro54=)	single nucleotide variant	not provided [RCV003578555]	Chr12:100380761 [GRCh38] Chr12:100774539 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.785A>C (p.Tyr262Ser)	single nucleotide variant	not provided [RCV003694748]	Chr12:100402361 [GRCh38] Chr12:100796139 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.945G>A (p.Pro315=)	single nucleotide variant	not provided [RCV003545448]	Chr12:100402637 [GRCh38] Chr12:100796415 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.589-17T>C	single nucleotide variant	not provided [RCV003881253]	Chr12:100396313 [GRCh38] Chr12:100790091 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1400T>C (p.Ile467Thr)	single nucleotide variant	not provided [RCV003557759]	Chr12:100418131 [GRCh38] Chr12:100811909 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.830C>T (p.Pro277Leu)	single nucleotide variant	Inborn genetic diseases [RCV004968501]\|not provided [RCV003839650]	Chr12:100402406 [GRCh38] Chr12:100796184 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1116A>G (p.Gln372=)	single nucleotide variant	not provided [RCV003855070]	Chr12:100404100 [GRCh38] Chr12:100797878 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.330T>C (p.Tyr110=)	single nucleotide variant	not provided [RCV003814294]	Chr12:100380929 [GRCh38] Chr12:100774707 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.102-5T>C	single nucleotide variant	not provided [RCV003815970]	Chr12:100380696 [GRCh38] Chr12:100774474 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.322A>G (p.Thr108Ala)	single nucleotide variant	not provided [RCV003551343]	Chr12:100380921 [GRCh38] Chr12:100774699 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.474-5C>A	single nucleotide variant	not provided [RCV003864143]	Chr12:100393364 [GRCh38] Chr12:100787142 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.173C>T (p.Ser58Phe)	single nucleotide variant	not provided [RCV003820828]	Chr12:100380772 [GRCh38] Chr12:100774550 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.903+9A>G	single nucleotide variant	not provided [RCV003722392]	Chr12:100402488 [GRCh38] Chr12:100796266 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.603A>G (p.Pro201=)	single nucleotide variant	not provided [RCV003864581]	Chr12:100396344 [GRCh38] Chr12:100790122 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.187C>G (p.Pro63Ala)	single nucleotide variant	not provided [RCV003676815]	Chr12:100380786 [GRCh38] Chr12:100774564 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.60A>T (p.Gly20=)	single nucleotide variant	not provided [RCV003707265]	Chr12:100357451 [GRCh38] Chr12:100751229 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1652C>T (p.Thr551Ile)	single nucleotide variant	not provided [RCV003862649]	Chr12:100420041 [GRCh38] Chr12:100813819 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1640C>G (p.Ser547Cys)	single nucleotide variant	not provided [RCV003842447]	Chr12:100420029 [GRCh38] Chr12:100813807 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.676+8T>C	single nucleotide variant	not provided [RCV003709681]	Chr12:100396425 [GRCh38] Chr12:100790203 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.235G>A (p.Ala79Thr)	single nucleotide variant	not provided [RCV003550787]	Chr12:100380834 [GRCh38] Chr12:100774612 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1068A>G (p.Ser356=)	single nucleotide variant	SLC17A8-related disorder [RCV003899380]	Chr12:100404052 [GRCh38] Chr12:100797830 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1707C>A (p.Thr569=)	single nucleotide variant	not provided [RCV003887546]	Chr12:100420096 [GRCh38] Chr12:100813874 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1363G>A (p.Gly455Arg)	single nucleotide variant	Inborn genetic diseases [RCV004448588]	Chr12:100418094 [GRCh38] Chr12:100811872 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.262A>G (p.Ile88Val)	single nucleotide variant	Inborn genetic diseases [RCV004448591]	Chr12:100380861 [GRCh38] Chr12:100774639 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1600C>T (p.Leu534Phe)	single nucleotide variant	Inborn genetic diseases [RCV004448590]	Chr12:100419989 [GRCh38] Chr12:100813767 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.903+1_903+6del	deletion	Autosomal dominant nonsyndromic hearing loss 25 [RCV003991300]	Chr12:100402475..100402480 [GRCh38] Chr12:100796253..100796258 [GRCh37] Chr12:12q23.1	likely pathogenic
NM_139319.3(SLC17A8):c.1405G>A (p.Gly469Ser)	single nucleotide variant	not provided [RCV004588927]	Chr12:100418136 [GRCh38] Chr12:100811914 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1057G>A (p.Gly353Ser)	single nucleotide variant	not provided [RCV004590731]	Chr12:100404041 [GRCh38] Chr12:100797819 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1363G>C (p.Gly455Arg)	single nucleotide variant	Inborn genetic diseases [RCV004676550]	Chr12:100418094 [GRCh38] Chr12:100811872 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1504G>C (p.Ala502Pro)	single nucleotide variant	not provided [RCV004593548]	Chr12:100419893 [GRCh38] Chr12:100813671 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1198G>C (p.Glu400Gln)	single nucleotide variant	Inborn genetic diseases [RCV004676549]	Chr12:100412781 [GRCh38] Chr12:100806559 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.500C>T (p.Thr167Ile)	single nucleotide variant	Inborn genetic diseases [RCV004670186]	Chr12:100393395 [GRCh38] Chr12:100787173 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.37dup (p.Ile13fs)	duplication	not provided [RCV004698092]	Chr12:100357422..100357423 [GRCh38] Chr12:100751200..100751201 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.238A>C (p.Ile80Leu)	single nucleotide variant	SLC17A8-related disorder [RCV004756606]	Chr12:100380837 [GRCh38] Chr12:100774615 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1339A>G (p.Ser447Gly)	single nucleotide variant	SLC17A8-related disorder [RCV004730572]	Chr12:100418070 [GRCh38] Chr12:100811848 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1581A>C (p.Glu527Asp)	single nucleotide variant	not provided [RCV004762989]	Chr12:100419970 [GRCh38] Chr12:100813748 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1632G>A (p.Lys544=)	single nucleotide variant	not provided [RCV004772684]	Chr12:100420021 [GRCh38] Chr12:100813799 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.676+3G>C	single nucleotide variant	not provided [RCV004768141]	Chr12:100396420 [GRCh38] Chr12:100790198 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1345C>G (p.Leu449Val)	single nucleotide variant	SLC17A8-related disorder [RCV004756933]	Chr12:100418076 [GRCh38] Chr12:100811854 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1730C>T (p.Ser577Phe)	single nucleotide variant	not provided [RCV004775955]	Chr12:100420119 [GRCh38] Chr12:100813897 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.888C>A (p.Asn296Lys)	single nucleotide variant	not provided [RCV004774050]	Chr12:100402464 [GRCh38] Chr12:100796242 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.53A>G (p.Lys18Arg)	single nucleotide variant	Inborn genetic diseases [RCV004957859]	Chr12:100357444 [GRCh38] Chr12:100751222 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.62T>C (p.Val21Ala)	single nucleotide variant	Inborn genetic diseases [RCV004957860]	Chr12:100357453 [GRCh38] Chr12:100751231 [GRCh37] Chr12:12q23.1	uncertain significance
GRCh37/hg19 12q23.1-23.2(chr12:99848062-103511070)x1	copy number loss	not provided [RCV004819851]	Chr12:99848062..103511070 [GRCh37] Chr12:12q23.1-23.2	uncertain significance
NM_139319.3(SLC17A8):c.572T>C (p.Leu191Pro)	single nucleotide variant	Inborn genetic diseases [RCV004957858]	Chr12:100393467 [GRCh38] Chr12:100787245 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1297+17G>A	single nucleotide variant	not provided [RCV005085214]	Chr12:100412897 [GRCh38] Chr12:100806675 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.588+20C>T	single nucleotide variant	not provided [RCV005060724]	Chr12:100393503 [GRCh38] Chr12:100787281 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.920G>A (p.Trp307Ter)	single nucleotide variant	not provided [RCV005171587]	Chr12:100402612 [GRCh38] Chr12:100796390 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.489C>T (p.Ala163=)	single nucleotide variant	not provided [RCV005086335]	Chr12:100393384 [GRCh38] Chr12:100787162 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.553G>A (p.Val185Ile)	single nucleotide variant	not provided [RCV005060912]	Chr12:100393448 [GRCh38] Chr12:100787226 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.898C>T (p.Leu300=)	single nucleotide variant	not provided [RCV005172957]	Chr12:100402474 [GRCh38] Chr12:100796252 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.914C>T (p.Thr305Ile)	single nucleotide variant	not specified [RCV005238334]	Chr12:100402606 [GRCh38] Chr12:100796384 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.129A>C (p.Glu43Asp)	single nucleotide variant	not provided [RCV005202542]	Chr12:100380728 [GRCh38] Chr12:100774506 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1121_1184del (p.Ala374fs)	deletion	not provided [RCV005074431]	Chr12:100404102..100404165 [GRCh38] Chr12:100797880..100797943 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.355-12T>G	single nucleotide variant	not provided [RCV005241771]	Chr12:100390989 [GRCh38] Chr12:100784767 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.166C>A (p.Gln56Lys)	single nucleotide variant	not provided [RCV005082341]	Chr12:100380765 [GRCh38] Chr12:100774543 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.402A>T (p.Gly134=)	single nucleotide variant	not provided [RCV005137925]	Chr12:100391048 [GRCh38] Chr12:100784826 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.588+11C>T	single nucleotide variant	not provided [RCV005177589]	Chr12:100393494 [GRCh38] Chr12:100787272 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1756T>C (p.Ser586Pro)	single nucleotide variant	not provided [RCV005110856]	Chr12:100420145 [GRCh38] Chr12:100813923 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1007G>A (p.Ser336Asn)	single nucleotide variant	not provided [RCV005179963]	Chr12:100402699 [GRCh38] Chr12:100796477 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.164dup (p.Gln56fs)	duplication	not provided [RCV005120118]	Chr12:100380762..100380763 [GRCh38] Chr12:100774540..100774541 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.439G>A (p.Gly147Ser)	single nucleotide variant	not provided [RCV005124689]	Chr12:100391085 [GRCh38] Chr12:100784863 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.663A>G (p.Thr221=)	single nucleotide variant	not provided [RCV005074628]	Chr12:100396404 [GRCh38] Chr12:100790182 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.1746G>C (p.Glu582Asp)	single nucleotide variant	not provided [RCV005251654]	Chr12:100420135 [GRCh38] Chr12:100813913 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.653G>A (p.Arg218Gln)	single nucleotide variant	Autosomal dominant nonsyndromic hearing loss 25 [RCV005393027]\|Inborn genetic diseases [RCV005281844]	Chr12:100396394 [GRCh38] Chr12:100790172 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.325G>A (p.Val109Ile)	single nucleotide variant	Inborn genetic diseases [RCV005281843]	Chr12:100380924 [GRCh38] Chr12:100774702 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.238A>G (p.Ile80Val)	single nucleotide variant	Inborn genetic diseases [RCV005281846]	Chr12:100380837 [GRCh38] Chr12:100774615 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1502T>C (p.Phe501Ser)	single nucleotide variant	Inborn genetic diseases [RCV005281847]	Chr12:100419891 [GRCh38] Chr12:100813669 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.725T>C (p.Val242Ala)	single nucleotide variant	Inborn genetic diseases [RCV005281848]	Chr12:100401825 [GRCh38] Chr12:100795603 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1663T>A (p.Cys555Ser)	single nucleotide variant	Inborn genetic diseases [RCV005281849]	Chr12:100420052 [GRCh38] Chr12:100813830 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.424A>G (p.Met142Val)	single nucleotide variant	Inborn genetic diseases [RCV005281850]	Chr12:100391070 [GRCh38] Chr12:100784848 [GRCh37] Chr12:12q23.1	likely benign
NM_139319.3(SLC17A8):c.658G>C (p.Ala220Pro)	single nucleotide variant	not provided [RCV005417294]	Chr12:100396399 [GRCh38] Chr12:100790177 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.683A>G (p.Tyr228Cys)	single nucleotide variant	not provided [RCV005429788]	Chr12:100401783 [GRCh38] Chr12:100795561 [GRCh37] Chr12:12q23.1	uncertain significance
NM_139319.3(SLC17A8):c.1216G>C (p.Val406Leu)	single nucleotide variant	not provided [RCV005413821]	Chr12:100412799 [GRCh38] Chr12:100806577 [GRCh37] Chr12:12q23.1	uncertain significance

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	974
Count of miRNA genes:	568
Interacting mature miRNAs:	642
Transcripts:	ENST00000323346, ENST00000392989, ENST00000547922, ENST00000552697
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597283640	GWAS1379714_H	C-reactive protein measurement QTL GWAS1379714 (human)		4e-08	C-reactive protein amount (VT:0010036)	blood C-reactive protein level (CMO:0003160)	12	100391494	100391495	Human
1559125	SPSL2_H	Serum P-selectin level QTL 2 (human)	2.59		Serum P-selectin level		12	89897665	115897665	Human
1643258	BW205_H	Body weight QTL 205 (human)	4.08	0.00001	Body fat amount	percent body fat	12	96630114	122630114	Human
597048350	GWAS1144424_H	C-reactive protein measurement QTL GWAS1144424 (human)		9e-09	C-reactive protein amount (VT:0010036)	blood C-reactive protein level (CMO:0003160)	12	100405607	100405608	Human
1643264	BW195_H	Body weight QTL 195 (human)		0.0151	Body weight	BMI	12	89897665	115897665	Human
597142716	GWAS1238790_H	total cholesterol measurement QTL GWAS1238790 (human)		0.000004	blood cholesterol amount (VT:0000180)	blood total cholesterol level (CMO:0000051)	12	100400026	100400027	Human
597161562	GWAS1257636_H	gut microbiome measurement QTL GWAS1257636 (human)		5e-08	gut microbiome measurement		12	100400815	100400816	Human
597282148	GWAS1378222_H	serum gamma-glutamyl transferase measurement QTL GWAS1378222 (human)		4e-10	blood gamma-glutamyltransferase amount (VT:0010607)	serum gamma-glutamyltransferase activity level (CMO:0002241)	12	100388110	100388111	Human
1358827	MULTSCL22_H	Multiple sclerosis susceptibility QTL 22 (human)			Multiple sclerosis susceptibility		12	89897665	115897665	Human
1357387	BW58_H	Body weight QTL 58 (human)	2.3	0.0001	Body weight	fat free mass after exercise training	12	89438856	115438856	Human

Markers in Region

D12S1030

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	102,924,807 - 102,925,065	UniSTS	GRCh37
Build 36	12	101,448,937 - 101,449,195	RGD	NCBI36
Celera	12	102,588,759 - 102,589,013	RGD
Cytogenetic Map	12	q23.1	UniSTS
HuRef	12	99,984,438 - 99,984,688	UniSTS
Marshfield Genetic Map	12	109.47	RGD
Marshfield Genetic Map	12	109.47	UniSTS
deCODE Assembly Map	12	114.24	UniSTS
Whitehead-YAC Contig Map	12		UniSTS

G64831

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	100,763,196 - 100,763,275	UniSTS	GRCh37
Build 36	12	99,287,327 - 99,287,406	RGD	NCBI36
Celera	12	100,428,460 - 100,428,539	RGD
Cytogenetic Map	12	q23.1	UniSTS
HuRef	12	97,824,244 - 97,824,323	UniSTS

G64829

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	100,763,198 - 100,763,402	UniSTS	GRCh37
Build 36	12	99,287,329 - 99,287,533	RGD	NCBI36
Celera	12	100,428,462 - 100,428,666	RGD
Cytogenetic Map	12	q23.1	UniSTS
HuRef	12	97,824,246 - 97,824,450	UniSTS

SHGC-110863

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	100,811,806 - 100,812,128	UniSTS	GRCh37
Build 36	12	99,335,937 - 99,336,259	RGD	NCBI36
Celera	12	100,477,074 - 100,477,396	RGD
Cytogenetic Map	12	q23.1	UniSTS
HuRef	12	97,872,873 - 97,873,195	UniSTS
TNG Radiation Hybrid Map	12	49813.0	UniSTS

G10266

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	100,774,236 - 100,774,476	UniSTS	GRCh37
Build 36	12	99,298,367 - 99,298,607	RGD	NCBI36
Celera	12	100,439,517 - 100,439,757	RGD
Cytogenetic Map	12	q23.1	UniSTS
HuRef	12	97,835,285 - 97,835,525	UniSTS

SHGC-145725

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	100,767,905 - 100,768,117	UniSTS	GRCh37
Build 36	12	99,292,036 - 99,292,248	RGD	NCBI36
Celera	12	100,433,169 - 100,433,381	RGD
Cytogenetic Map	12	q23.1	UniSTS
HuRef	12	97,828,953 - 97,829,165	UniSTS
TNG Radiation Hybrid Map	12	49766.0	UniSTS

SLC17A8_1283

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	100,815,187 - 100,816,018	UniSTS	GRCh37
Build 36	12	99,339,318 - 99,340,149	RGD	NCBI36
Celera	12	100,480,455 - 100,481,287	RGD
HuRef	12	97,876,254 - 97,877,076	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	visual system
316	1138	839	670	3579	921	974	2	388	568	347	805	2757	1846	23	2986	342	1057	546	44	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_021175	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001145288	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_139319	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB839121	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC026110	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC126308	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ459241	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK128319	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC117229	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143396	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000323346 ⟹ ENSP00000316909

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	100,357,074 - 100,422,055 (+)	Ensembl

Ensembl Acc Id:

ENST00000392989 ⟹ ENSP00000376715

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	100,357,368 - 100,420,252 (+)	Ensembl

Ensembl Acc Id:

ENST00000547922

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	100,402,618 - 100,404,380 (+)	Ensembl

Ensembl Acc Id:

ENST00000552697

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	100,410,621 - 100,420,089 (+)	Ensembl

RefSeq Acc Id:

NM_001145288 ⟹ NP_001138760

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	100,357,074 - 100,422,055 (+)	NCBI
GRCh37	12	100,750,857 - 100,815,837 (+)	ENTREZGENE
HuRef	12	97,811,908 - 97,876,895 (+)	ENTREZGENE
CHM1_1	12	100,716,885 - 100,781,879 (+)	NCBI
T2T-CHM13v2.0	12	100,318,500 - 100,383,494 (+)	NCBI

Sequence:

show sequence

AGTCTGAGAGTGGCTGCCTGAGACAGCTGCCACAGGCTGCTGCAGAGCGTGCAGCTTTTGCAAG
GGACTGAATTCCCAGCCAGACACCCCTTGGACTCTTTTTTGGAGGGGTGGGGAGCAGAGAGAGG
AGGGAGTTGTCTTATCTTGGAAGATCCGAGCTGGGTTTCATCTCCTTTTTGATTTTGAGTAGTT
CCCTCCACGAGAACTGACTTCCAGGTGTTCACCAAGGGAAACAAGGTGGTTCTCACACTGGAAA
TGAGGAAGGATGACAGTTTTTGAGACTGACTGTTAACGGCTCAGAGGTGCCCCTCATTCAAAAT
GCCTTTTAAAGCATTTGATACCTTCAAAGAAAAAATTCTGAAACCTGGGAAGGAAGGAGTGAAG
AACGCCGTGGGAGATTCTTTGGGAATTTTACAAAGAAAAATCGATGGGACAACTGAGGAAGAAG
ATAACATTGAGCTGAATGAAGAAGGAAGGCCGGTGCAGACGTCCAGGCCAAGCCCCCCACTCTG
CGACTGCCACTGCTGCGGCCTCCCCAAGCGTTACATCATTGCTATCATGAGTGGGCTGGGATTC
TGCATTTCCTTTGGGATCCGGTGCAATCTTGGAGTTGCCATTGTGGAAATGGTCAACAATAGCA
CCGTATATGTTGATGGAAAACCGGAAATTCAGACAGCACAGTTTAACTGGGATCCAGAAACAGT
GGGCCTTATCCATGGATCTTTTTTCTGGGGCTATATTATGACACAAATTCCAGGTGGTTTCATT
TCAAACAAGTTTGCTGCTAACAGGGTCTTTGGAGCTGCCATCTTCTTAACATCGACTCTGAACA
TGTTTATTCCCTCTGCAGCCAGAGTGCATTACGGATGCGTCATGTGTGTCAGAATTCTGCAAGG
TTTAGTGGAGGGTGTGACCTACCCAGCCTGCCATGGGATGTGGAGTAAGTGGGCACCACCTTTG
GAGAGAAGCCGACTGGCCACAACCTCTTTTTGTGGTTCCTATGCAGGGGCAGTGGTTGCCATGC
CCCTGGCTGGGGTGTTGGTGCAGTACATTGGATGGTCCTCTGTCTTTTATATTTATGGCATGTT
TGGGATTATTTGGTACATGTTTTGGCTGTTGCAGGCCTATGAGTGCCCAGCAGCTCATCCAACA
ATATCCAATGAGGAGAAGACCTATATAGAGACAAGCATAGGAGAGGGGGCCAACGTGGTTAGTC
TAAGTGTGGGTCTCTTGTCAGCAGTCCCACACATGGTTATGACAATCGTTGTACCTATTGGAGG
ACAATTGGCTGATTATTTAAGAAGCAGACAAATTTTAACCACAACTGCTGTCAGAAAAATCATG
AACTGTGGAGGTTTTGGCATGGAGGCAACCTTACTCCTGGTGGTTGGCTTTTCGCATACCAAAG
GGGTGGCTATCTCCTTTCTGGTACTTGCTGTAGGATTTAGTGGCTTCGCTATTTCAGGTTTTAA
TGTCAACCACCTGGACATTGCCCCACGCTATGCCAGCATTCTCATGGGGATCTCAAACGGAGTG
GGAACCCTCTCTGGAATGGTCTGTCCCCTCATTGTCGGTGCAATGACCAGGCACAAGACCCGTG
AAGAATGGCAGAATGTGTTCCTCATAGCTGCCCTGGTGCATTACAGTGGTGTGATCTTCTATGG
GGTCTTTGCTTCTGGGGAGAAACAGGAGTGGGCTGACCCAGAGAATCTCTCTGAGGAGAAATGT
GGAATCATTGACCAGGACGAATTAGCTGAGGAGATAGAACTCAACCATGAGAGTTTTGCGAGTC
CCAAAAAGAAGATGTCTTATGGAGCCACCTCCCAGAATTGTGAAGTCCAGAAGAAGGAATGGAA
AGGACAGAGAGGAGCGACCCTTGATGAGGAAGAGCTGACATCCTACCAGAATGAAGAGAGAAAC
TTCTCAACTATATCCTAATGTCTGAGAGGCACTTCTGTCTTCTCCTTACTTTAGAAACAGAAAG
TATCCATACCTATTGCCTTTCTTGTAGCCCAGCTTGCCAGAGGTCCAAATATTGGGAGGGGAGA
AGATCTAACCAGCAACAGGGAAAAGAGAAATATTATCTTTCAATGACATGTATAGGTAAGGAGC
TGCGCTCAGTTGATAACATAGTTGATAATACATATTTTTTGAATTGACAGTTGACCCTTCTCTC
AAAGAGCTAAACTTATTCAGAAAGGAATGACTAGAAGAAAAAGGAGACAATACCATGTTGTTCA
AAGAAACATTGAAGGAAATTGGGATGTTTGGCCAGAAGGAATGTAAACAGTAGTAGTAGCTGCC
ACCACATCTCTAGGGTAGCCATGCAGAGGAGGGCTTCATATTCCCAATAAACCCCACGTTGTGG
CAGGTGCTTTATAAACACTCTTATTTAATCTCCACACCTTTATGACACACATTTCTTATCCCCA
TTTTACAACCAAGGCATCTAAAGCAACAAGAAATGAACTTGCCCAAGGTCATCTGCCAGGGTCA
GTGCTGAGACTGTTGAAGCTCTCAATAGGTGGCAGTTTTAGGGAAGATTTCCATTCAGTGTAGG
GAAGACATTTGTAATAATGAAAACTGAAAATGGAGTAATTGTGAGTAACTCACCACTTTAGCAG
GTGTTGGGGAAGGGAAACATTTGGGTTGATGAGGCAGAGGGGATTCAAATGTGTGAGAGGCTAG
ATTCAAAGACCCTCAGTGTTCTATGTTATCTGAAGAGTCAAATGGTTTTGTGACTCCATAGTTT
TTAAAGTAATAAGGGTCAAAGACTACATCAGAGATTCAAATAGGTTTTTAAAGAAAAGCTAAGC
AAGAGAGCCAAATTTTTAGAAATCTGATGGTCAAAATAGCTGAAAGCAGTAAACAAGAGATTGG
CTATTAAATTTCAACTTTCCATAATATTAAGAATGTAGCTAAATGATGTCCCAAACTACTTACA
AACTTTTAAGACATTTAATAATTTAAGAAGTAGGTTCATGTGTTTTCTTAGGTAAAGTTCTTCT
GAAAGAATTTTCTATTTTTAAAAAATGTATCTCTTTAGCCTTTTCTGCTGGAGATTATATTAGG
AAGTTTCATCAGATTGTATAAAATTATGATTTTGTATCAAAAGTATTCATGATGACTCTATTTG
GAATGATATTCAGGGAAATCACAATAATATAGCAGTAGTTATACAGAGAAATACTACAATGAAA
ACATTTGGGGCAATTAGACCTACAGTTACTGTTGAAAAATTCACCTTTGATTGCATAAGGCAAT
TACATGGATACTTTTAGATATATTTAAAATTTTAACATTGGCATCTAAAGTGTTATTTGAAAAT
AAAATTATTTTCCTGTTCATTGATTTTAAACATTTTATTCCTACTTTCAGAAGAAAAATATAAT
ACGGAAAAAATTATAGATTTACTTGTAGCTTATTATTGTAAAGTGTTTTTTTTTTTTTTTTTTT
TTTCTAATTTCTCCCACATGTATTTCTGGTCCCCAGTGATACTAGCTGAGTTGTAGTGTATTTT
ATAAATGGAATAATCTTGGGGAAAAATTGCGATTCTTCATTAAATAATATTCTTTATGTCACTA
GCATACAATTTATGTTAGTAGACATCTTTAAATCTCTTTAATGAGTGAATCCATGCAAGCCCCA
TAAAACAGTTCCTAGCATGCAGAAAATGCCCACGTAAATAGCTGTCATCATCATTATCTTTTAA
CATTTTGGGGGACTTTCCAGTTGAAAAGAAAACATGCTATGTCATTTTTATCCATTATCCCTGG
AACTTATTGTGAAAGTTGTGCTGTTTTCTAAGTAAAATAAAAAATAAAAAATTAGCAA

hide sequence

RefSeq Acc Id:

NM_139319 ⟹ NP_647480

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	100,357,074 - 100,422,055 (+)	NCBI
GRCh37	12	100,750,857 - 100,815,837 (+)	ENTREZGENE
Build 36	12	99,275,125 - 99,339,968 (+)	NCBI Archive
HuRef	12	97,811,908 - 97,876,895 (+)	ENTREZGENE
CHM1_1	12	100,716,885 - 100,781,879 (+)	NCBI
T2T-CHM13v2.0	12	100,318,500 - 100,383,494 (+)	NCBI

Sequence:

show sequence

AGTCTGAGAGTGGCTGCCTGAGACAGCTGCCACAGGCTGCTGCAGAGCGTGCAGCTTTTGCAAG
GGACTGAATTCCCAGCCAGACACCCCTTGGACTCTTTTTTGGAGGGGTGGGGAGCAGAGAGAGG
AGGGAGTTGTCTTATCTTGGAAGATCCGAGCTGGGTTTCATCTCCTTTTTGATTTTGAGTAGTT
CCCTCCACGAGAACTGACTTCCAGGTGTTCACCAAGGGAAACAAGGTGGTTCTCACACTGGAAA
TGAGGAAGGATGACAGTTTTTGAGACTGACTGTTAACGGCTCAGAGGTGCCCCTCATTCAAAAT
GCCTTTTAAAGCATTTGATACCTTCAAAGAAAAAATTCTGAAACCTGGGAAGGAAGGAGTGAAG
AACGCCGTGGGAGATTCTTTGGGAATTTTACAAAGAAAAATCGATGGGACAACTGAGGAAGAAG
ATAACATTGAGCTGAATGAAGAAGGAAGGCCGGTGCAGACGTCCAGGCCAAGCCCCCCACTCTG
CGACTGCCACTGCTGCGGCCTCCCCAAGCGTTACATCATTGCTATCATGAGTGGGCTGGGATTC
TGCATTTCCTTTGGGATCCGGTGCAATCTTGGAGTTGCCATTGTGGAAATGGTCAACAATAGCA
CCGTATATGTTGATGGAAAACCGGAAATTCAGACAGCACAGTTTAACTGGGATCCAGAAACAGT
GGGCCTTATCCATGGATCTTTTTTCTGGGGCTATATTATGACACAAATTCCAGGTGGTTTCATT
TCAAACAAGTTTGCTGCTAACAGGGTCTTTGGAGCTGCCATCTTCTTAACATCGACTCTGAACA
TGTTTATTCCCTCTGCAGCCAGAGTGCATTACGGATGCGTCATGTGTGTCAGAATTCTGCAAGG
TTTAGTGGAGGGTGTGACCTACCCAGCCTGCCATGGGATGTGGAGTAAGTGGGCACCACCTTTG
GAGAGAAGCCGACTGGCCACAACCTCTTTTTGTGGTTCCTATGCAGGGGCAGTGGTTGCCATGC
CCCTGGCTGGGGTGTTGGTGCAGTACATTGGATGGTCCTCTGTCTTTTATATTTATGGCATGTT
TGGGATTATTTGGTACATGTTTTGGCTGTTGCAGGCCTATGAGTGCCCAGCAGCTCATCCAACA
ATATCCAATGAGGAGAAGACCTATATAGAGACAAGCATAGGAGAGGGGGCCAACGTGGTTAGTC
TAAGTAAATTTAGTACCCCATGGAAAAGATTTTTCACATCTTTGCCGGTTTATGCAATCATTGT
GGCAAATTTTTGCAGAAGCTGGACCTTTTATTTGCTCCTCATAAGTCAGCCTGCTTATTTTGAA
GAGGTCTTTGGATTTGCAATAAGTAAGGTGGGTCTCTTGTCAGCAGTCCCACACATGGTTATGA
CAATCGTTGTACCTATTGGAGGACAATTGGCTGATTATTTAAGAAGCAGACAAATTTTAACCAC
AACTGCTGTCAGAAAAATCATGAACTGTGGAGGTTTTGGCATGGAGGCAACCTTACTCCTGGTG
GTTGGCTTTTCGCATACCAAAGGGGTGGCTATCTCCTTTCTGGTACTTGCTGTAGGATTTAGTG
GCTTCGCTATTTCAGGTTTTAATGTCAACCACCTGGACATTGCCCCACGCTATGCCAGCATTCT
CATGGGGATCTCAAACGGAGTGGGAACCCTCTCTGGAATGGTCTGTCCCCTCATTGTCGGTGCA
ATGACCAGGCACAAGACCCGTGAAGAATGGCAGAATGTGTTCCTCATAGCTGCCCTGGTGCATT
ACAGTGGTGTGATCTTCTATGGGGTCTTTGCTTCTGGGGAGAAACAGGAGTGGGCTGACCCAGA
GAATCTCTCTGAGGAGAAATGTGGAATCATTGACCAGGACGAATTAGCTGAGGAGATAGAACTC
AACCATGAGAGTTTTGCGAGTCCCAAAAAGAAGATGTCTTATGGAGCCACCTCCCAGAATTGTG
AAGTCCAGAAGAAGGAATGGAAAGGACAGAGAGGAGCGACCCTTGATGAGGAAGAGCTGACATC
CTACCAGAATGAAGAGAGAAACTTCTCAACTATATCCTAATGTCTGAGAGGCACTTCTGTCTTC
TCCTTACTTTAGAAACAGAAAGTATCCATACCTATTGCCTTTCTTGTAGCCCAGCTTGCCAGAG
GTCCAAATATTGGGAGGGGAGAAGATCTAACCAGCAACAGGGAAAAGAGAAATATTATCTTTCA
ATGACATGTATAGGTAAGGAGCTGCGCTCAGTTGATAACATAGTTGATAATACATATTTTTTGA
ATTGACAGTTGACCCTTCTCTCAAAGAGCTAAACTTATTCAGAAAGGAATGACTAGAAGAAAAA
GGAGACAATACCATGTTGTTCAAAGAAACATTGAAGGAAATTGGGATGTTTGGCCAGAAGGAAT
GTAAACAGTAGTAGTAGCTGCCACCACATCTCTAGGGTAGCCATGCAGAGGAGGGCTTCATATT
CCCAATAAACCCCACGTTGTGGCAGGTGCTTTATAAACACTCTTATTTAATCTCCACACCTTTA
TGACACACATTTCTTATCCCCATTTTACAACCAAGGCATCTAAAGCAACAAGAAATGAACTTGC
CCAAGGTCATCTGCCAGGGTCAGTGCTGAGACTGTTGAAGCTCTCAATAGGTGGCAGTTTTAGG
GAAGATTTCCATTCAGTGTAGGGAAGACATTTGTAATAATGAAAACTGAAAATGGAGTAATTGT
GAGTAACTCACCACTTTAGCAGGTGTTGGGGAAGGGAAACATTTGGGTTGATGAGGCAGAGGGG
ATTCAAATGTGTGAGAGGCTAGATTCAAAGACCCTCAGTGTTCTATGTTATCTGAAGAGTCAAA
TGGTTTTGTGACTCCATAGTTTTTAAAGTAATAAGGGTCAAAGACTACATCAGAGATTCAAATA
GGTTTTTAAAGAAAAGCTAAGCAAGAGAGCCAAATTTTTAGAAATCTGATGGTCAAAATAGCTG
AAAGCAGTAAACAAGAGATTGGCTATTAAATTTCAACTTTCCATAATATTAAGAATGTAGCTAA
ATGATGTCCCAAACTACTTACAAACTTTTAAGACATTTAATAATTTAAGAAGTAGGTTCATGTG
TTTTCTTAGGTAAAGTTCTTCTGAAAGAATTTTCTATTTTTAAAAAATGTATCTCTTTAGCCTT
TTCTGCTGGAGATTATATTAGGAAGTTTCATCAGATTGTATAAAATTATGATTTTGTATCAAAA
GTATTCATGATGACTCTATTTGGAATGATATTCAGGGAAATCACAATAATATAGCAGTAGTTAT
ACAGAGAAATACTACAATGAAAACATTTGGGGCAATTAGACCTACAGTTACTGTTGAAAAATTC
ACCTTTGATTGCATAAGGCAATTACATGGATACTTTTAGATATATTTAAAATTTTAACATTGGC
ATCTAAAGTGTTATTTGAAAATAAAATTATTTTCCTGTTCATTGATTTTAAACATTTTATTCCT
ACTTTCAGAAGAAAAATATAATACGGAAAAAATTATAGATTTACTTGTAGCTTATTATTGTAAA
GTGTTTTTTTTTTTTTTTTTTTTTTCTAATTTCTCCCACATGTATTTCTGGTCCCCAGTGATAC
TAGCTGAGTTGTAGTGTATTTTATAAATGGAATAATCTTGGGGAAAAATTGCGATTCTTCATTA
AATAATATTCTTTATGTCACTAGCATACAATTTATGTTAGTAGACATCTTTAAATCTCTTTAAT
GAGTGAATCCATGCAAGCCCCATAAAACAGTTCCTAGCATGCAGAAAATGCCCACGTAAATAGC
TGTCATCATCATTATCTTTTAACATTTTGGGGGACTTTCCAGTTGAAAAGAAAACATGCTATGT
CATTTTTATCCATTATCCCTGGAACTTATTGTGAAAGTTGTGCTGTTTTCTAAGTAAAATAAAA
AATAAAAAATTAGCAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001138760	(Get FASTA)	NCBI Sequence Viewer
	NP_647480	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI17230	(Get FASTA)	NCBI Sequence Viewer
	AAI43397	(Get FASTA)	NCBI Sequence Viewer
	BAG54658	(Get FASTA)	NCBI Sequence Viewer
	CAD30553	(Get FASTA)	NCBI Sequence Viewer
	EAW97637	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000316909
	ENSP00000316909.4
	ENSP00000376715
	ENSP00000376715.3
GenBank Protein	Q8NDX2	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_647480 ⟸ NM_139319
- Peptide Label:	isoform 1
- UniProtKB:	B7ZKV4 (UniProtKB/Swiss-Prot), B3KXZ6 (UniProtKB/Swiss-Prot), Q17RQ8 (UniProtKB/Swiss-Prot), Q8NDX2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPFKAFDTFKEKILKPGKEGVKNAVGDSLGILQRKIDGTTEEEDNIELNEEGRPVQTSRPSPPL CDCHCCGLPKRYIIAIMSGLGFCISFGIRCNLGVAIVEMVNNSTVYVDGKPEIQTAQFNWDPET VGLIHGSFFWGYIMTQIPGGFISNKFAANRVFGAAIFLTSTLNMFIPSAARVHYGCVMCVRILQ GLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGAVVAMPLAGVLVQYIGWSSVFYIYGM FGIIWYMFWLLQAYECPAAHPTISNEEKTYIETSIGEGANVVSLSKFSTPWKRFFTSLPVYAII VANFCRSWTFYLLLISQPAYFEEVFGFAISKVGLLSAVPHMVMTIVVPIGGQLADYLRSRQILT TTAVRKIMNCGGFGMEATLLLVVGFSHTKGVAISFLVLAVGFSGFAISGFNVNHLDIAPRYASI LMGISNGVGTLSGMVCPLIVGAMTRHKTREEWQNVFLIAALVHYSGVIFYGVFASGEKQEWADP ENLSEEKCGIIDQDELAEEIELNHESFASPKKKMSYGATSQNCEVQKKEWKGQRGATLDEEELT SYQNEERNFSTIS hide sequence

RefSeq Acc Id:	NP_001138760 ⟸ NM_001145288
- Peptide Label:	isoform 2
- UniProtKB:	Q8NDX2 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MPFKAFDTFKEKILKPGKEGVKNAVGDSLGILQRKIDGTTEEEDNIELNEEGRPVQTSRPSPPL CDCHCCGLPKRYIIAIMSGLGFCISFGIRCNLGVAIVEMVNNSTVYVDGKPEIQTAQFNWDPET VGLIHGSFFWGYIMTQIPGGFISNKFAANRVFGAAIFLTSTLNMFIPSAARVHYGCVMCVRILQ GLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGAVVAMPLAGVLVQYIGWSSVFYIYGM FGIIWYMFWLLQAYECPAAHPTISNEEKTYIETSIGEGANVVSLSVGLLSAVPHMVMTIVVPIG GQLADYLRSRQILTTTAVRKIMNCGGFGMEATLLLVVGFSHTKGVAISFLVLAVGFSGFAISGF NVNHLDIAPRYASILMGISNGVGTLSGMVCPLIVGAMTRHKTREEWQNVFLIAALVHYSGVIFY GVFASGEKQEWADPENLSEEKCGIIDQDELAEEIELNHESFASPKKKMSYGATSQNCEVQKKEW KGQRGATLDEEELTSYQNEERNFSTIS hide sequence

Ensembl Acc Id:

ENSP00000316909 ⟸ ENST00000323346

Ensembl Acc Id:

ENSP00000376715 ⟸ ENST00000392989

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NDX2-F1-model_v2	AlphaFold	Q8NDX2	1-589	view protein structure

Promoters

RGD ID:

7225149

Promoter ID:

EPDNEW_H18320

Type:

initiation region

Name:

SLC17A8_1

Description:

solute carrier family 17 member 8

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	100,357,074 - 100,357,134	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:20151	AgrOrtholog
COSMIC	SLC17A8	COSMIC
Ensembl Genes	ENSG00000179520	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000323346	ENTREZGENE
	ENST00000323346.10	UniProtKB/Swiss-Prot
	ENST00000392989	ENTREZGENE
	ENST00000392989.3	UniProtKB/Swiss-Prot
Gene3D-CATH	1.20.1250.20	UniProtKB/Swiss-Prot
GTEx	ENSG00000179520	GTEx
HGNC ID	HGNC:20151	ENTREZGENE
Human Proteome Map	SLC17A8	Human Proteome Map
InterPro	MFS	UniProtKB/Swiss-Prot
	MFS_dom	UniProtKB/Swiss-Prot
	MFS_Na/Anion_cotransporter	UniProtKB/Swiss-Prot
	MFS_trans_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:246213	UniProtKB/Swiss-Prot
NCBI Gene	246213	ENTREZGENE
OMIM	607557	OMIM
PANTHER	SOLUTE CARRIER FAMILY 17	UniProtKB/Swiss-Prot
	VESICULAR GLUTAMATE TRANSPORTER 3	UniProtKB/Swiss-Prot
Pfam	MFS_1	UniProtKB/Swiss-Prot
PharmGKB	PA223010	PharmGKB
PROSITE	MFS	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF103473	UniProtKB/Swiss-Prot
UniProt	B3KXZ6	ENTREZGENE
	B7ZKV4	ENTREZGENE
	Q17RQ8	ENTREZGENE
	Q8NDX2	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	B3KXZ6	UniProtKB/Swiss-Prot
	B7ZKV4	UniProtKB/Swiss-Prot
	Q17RQ8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-03-23	SLC17A8	solute carrier family 17 member 8	DFNA25	deafness, autosomal dominant 25	Data merged from RGD:1347485	737654	PROVISIONAL
2016-02-23	SLC17A8	solute carrier family 17 member 8		solute carrier family 17 (vesicular glutamate transporter), member 8	Symbol and/or name change	5135510	APPROVED
2013-07-23	SLC17A8	solute carrier family 17 (vesicular glutamate transporter), member 8		solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO