SNX14 (sorting nexin 14) - Rat Genome Database

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Gene: SNX14 (sorting nexin 14) Homo sapiens
Analyze
Symbol: SNX14
Name: sorting nexin 14
RGD ID: 1322101
HGNC Page HGNC:14977
Description: Enables phosphatidylinositol-3,5-bisphosphate binding activity. Involved in autophagosome maturation. Located in cytosol; late endosome; and lysosome. Implicated in autosomal recessive spinocerebellar ataxia 20.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC13217; RGS-PX2; RP11-321N4.2; SCAR20; sorting nexin-14
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38685,505,496 - 85,593,858 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl685,504,776 - 85,594,156 (-)EnsemblGRCh38hg38GRCh38
GRCh37686,215,214 - 86,303,576 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36686,271,933 - 86,360,348 (-)NCBINCBI36Build 36hg18NCBI36
Build 34686,271,935 - 86,360,348NCBI
Celera686,642,396 - 86,730,827 (-)NCBICelera
Cytogenetic Map6q14.3NCBI
HuRef683,439,499 - 83,527,927 (-)NCBIHuRef
CHM1_1686,313,156 - 86,401,522 (-)NCBICHM1_1
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral white matter morphology  (IAGP)
Abnormality of brain morphology  (IAGP)
Absent speech  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Apraxia  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Babinski sign  (IAGP)
Brachydactyly  (IAGP)
Broad face  (IAGP)
Broad philtrum  (IAGP)
Broad-based gait  (IAGP)
Bulbous nose  (IAGP)
Camptodactyly  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Childhood onset  (IAGP)
Clinodactyly  (IAGP)
Coarse facial features  (IAGP)
Deep philtrum  (IAGP)
Delayed ability to sit  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed fine motor development  (IAGP)
Delayed gross motor development  (IAGP)
Delayed social development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Epicanthus  (IAGP)
Facial hypertrichosis  (IAGP)
Frontal bossing  (IAGP)
Full cheeks  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
High palate  (IAGP)
Hypertrichosis  (IAGP)
Hypoplasia of the pons  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Kyphoscoliosis  (IAGP)
Long philtrum  (IAGP)
Macroglossia  (IAGP)
Neonatal onset  (IAGP)
Neuropathic spinal arthropathy  (IAGP)
Nystagmus  (IAGP)
Oligosacchariduria  (IAGP)
Palpebral edema  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus carinatum  (IAGP)
Pointed chin  (IAGP)
Prominent forehead  (IAGP)
Relative macrocephaly  (IAGP)
Retrocerebellar cyst  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe global developmental delay  (IAGP)
Short palpebral fissure  (IAGP)
Small forehead  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Talipes equinovarus  (IAGP)
Telecanthus  (IAGP)
Thick vermilion border  (IAGP)
Thickened calvaria  (IAGP)
Wide nasal base  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11485546   PMID:11500980   PMID:11736640   PMID:12461558   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:18160415   PMID:20301317   PMID:21873635   PMID:22658674  
PMID:22810586   PMID:25148684   PMID:25439728   PMID:25848753   PMID:26186194   PMID:26496610   PMID:27913285   PMID:28514442   PMID:28986522   PMID:29635513   PMID:29872149   PMID:30655611  
PMID:30765438   PMID:32694731   PMID:33961781   PMID:34079125   PMID:34432599   PMID:35271311  


Genomics

Comparative Map Data
SNX14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38685,505,496 - 85,593,858 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl685,504,776 - 85,594,156 (-)EnsemblGRCh38hg38GRCh38
GRCh37686,215,214 - 86,303,576 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36686,271,933 - 86,360,348 (-)NCBINCBI36Build 36hg18NCBI36
Build 34686,271,935 - 86,360,348NCBI
Celera686,642,396 - 86,730,827 (-)NCBICelera
Cytogenetic Map6q14.3NCBI
HuRef683,439,499 - 83,527,927 (-)NCBIHuRef
CHM1_1686,313,156 - 86,401,522 (-)NCBICHM1_1
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBIT2T-CHM13v2.0
Snx14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39988,258,805 - 88,320,982 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl988,258,800 - 88,321,011 (-)EnsemblGRCm39 Ensembl
GRCm38988,376,755 - 88,438,929 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl988,376,750 - 88,438,958 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl988,376,747 - 88,438,958 (-)EnsemblGRCm38mm10GRCm38
MGSCv37988,271,585 - 88,333,789 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36988,174,668 - 88,236,822 (-)NCBIMGSCv36mm8
Celera985,403,829 - 85,465,439 (-)NCBICelera
Cytogenetic Map9E3.1NCBI
Snx14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2889,283,673 - 89,390,597 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl889,298,114 - 89,390,580 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx894,990,651 - 95,060,048 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0893,189,862 - 93,259,261 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0891,049,278 - 91,118,582 (-)NCBIRnor_WKY
Rnor_6.0896,018,943 - 96,088,405 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl896,023,445 - 96,088,405 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0895,518,745 - 95,583,948 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4893,645,995 - 93,711,298 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1893,665,874 - 93,730,750 (-)NCBI
Celera888,891,510 - 88,960,133 (-)NCBICelera
Cytogenetic Map8q31NCBI
Snx14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541112,969,114 - 13,048,836 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541112,967,980 - 13,048,839 (-)NCBIChiLan1.0ChiLan1.0
SNX14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1686,671,608 - 86,759,187 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl686,671,608 - 86,759,118 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0683,389,608 - 83,477,859 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
SNX14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11245,526,042 - 45,598,868 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1245,518,721 - 45,599,012 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1245,340,809 - 45,413,610 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01246,295,243 - 46,368,369 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1246,295,255 - 46,368,497 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11245,628,679 - 45,701,471 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01245,557,567 - 45,630,672 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01245,744,588 - 45,817,744 (-)NCBIUU_Cfam_GSD_1.0
Snx14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494680,684,221 - 80,785,553 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365105,685,017 - 5,786,703 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365105,685,342 - 5,786,672 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SNX14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl154,460,640 - 54,547,216 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1154,460,645 - 54,547,204 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2160,891,438 - 60,977,555 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SNX14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11310,172,960 - 10,265,852 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1310,173,023 - 10,265,766 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040186,342,607 - 186,451,385 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Snx14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247998,670,883 - 8,753,631 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247998,695,488 - 8,754,094 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SNX14
105 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV000625883] Chr6:85572305 [GRCh38]
Chr6:86282023 [GRCh37]
Chr6:6q14.3
pathogenic
NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV000170502] Chr6:85513857 [GRCh38]
Chr6:86223575 [GRCh37]
Chr6:6q14.3
pathogenic
NM_153816.2(SNX14):c.1108+1181_2108-2342del deletion Autosomal recessive spinocerebellar ataxia 20 [RCV000170503] Chr6:6q14.3 pathogenic
NM_153816.6(SNX14):c.645dup (p.Glu216fs) duplication Autosomal recessive spinocerebellar ataxia 20 [RCV000170504] Chr6:85549868..85549869 [GRCh38]
Chr6:86259586..86259587 [GRCh37]
Chr6:6q14.3
pathogenic
NM_153816.6(SNX14):c.1894+1G>T single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV000170505] Chr6:85530191 [GRCh38]
Chr6:86239909 [GRCh37]
Chr6:6q14.3
pathogenic
NM_153816.6(SNX14):c.428T>A (p.Leu143Ter) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV000170507] Chr6:85567567 [GRCh38]
Chr6:86277285 [GRCh37]
Chr6:6q14.3
pathogenic
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) deletion Autosomal recessive spinocerebellar ataxia 20 [RCV000170508]|not provided [RCV001093187] Chr6:85508043 [GRCh38]
Chr6:86217761 [GRCh37]
Chr6:6q14.3
pathogenic
GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1 copy number loss See cases [RCV000052192] Chr6:82569098..93753476 [GRCh38]
Chr6:83278815..94463194 [GRCh37]
Chr6:83335534..94519915 [NCBI36]
Chr6:6q14.1-16.1
pathogenic
NM_020468.5(SNX14):c.1126C>T (p.Gln376Ter) single nucleotide variant Malignant melanoma [RCV000067488] Chr6:85543611 [GRCh38]
Chr6:86253329 [GRCh37]
Chr6:86310048 [NCBI36]
Chr6:6q14.3
not provided
NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV000170506]|not provided [RCV002225490] Chr6:85543737 [GRCh38]
Chr6:86253455 [GRCh37]
Chr6:6q14.3
pathogenic
GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1 copy number loss See cases [RCV000135773] Chr6:83838303..98822313 [GRCh38]
Chr6:84548022..99270189 [GRCh37]
Chr6:84604741..99376910 [NCBI36]
Chr6:6q14.2-16.1
pathogenic
GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1 copy number loss See cases [RCV000136757] Chr6:85370716..90669793 [GRCh38]
Chr6:86080434..91379512 [GRCh37]
Chr6:86137153..91436233 [NCBI36]
Chr6:6q14.3-15
pathogenic
GRCh38/hg38 6q14.3-15(chr6:84926864-87365441)x1 copy number loss See cases [RCV000137766] Chr6:84926864..87365441 [GRCh38]
Chr6:85636582..88075159 [GRCh37]
Chr6:85693301..88131878 [NCBI36]
Chr6:6q14.3-15
likely pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1
pathogenic
GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1 copy number loss See cases [RCV000143505] Chr6:75926199..92710793 [GRCh38]
Chr6:76635916..93420511 [GRCh37]
Chr6:76692636..93477232 [NCBI36]
Chr6:6q14.1-16.1
pathogenic
NM_153816.6(SNX14):c.2654-262del deletion not provided [RCV001574287] Chr6:85508321 [GRCh38]
Chr6:86218039 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.1600G>C (p.Asp534His) single nucleotide variant not provided [RCV002285600] Chr6:85536800 [GRCh38]
Chr6:86246518 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.919A>G (p.Lys307Glu) single nucleotide variant not provided [RCV000523064] Chr6:85547391 [GRCh38]
Chr6:86257109 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.1897_1898delinsTT (p.Ala633Leu) indel not provided [RCV000735127] Chr6:85528359..85528360 [GRCh38]
Chr6:86238077..86238078 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV001808789]|not provided [RCV000413946] Chr6:85547112 [GRCh38]
Chr6:86256830 [GRCh37]
Chr6:6q14.3
pathogenic
NM_153816.6(SNX14):c.1672dup (p.Thr558fs) duplication Abnormality of brain morphology [RCV000454285] Chr6:85533736..85533737 [GRCh38]
Chr6:86243454..86243455 [GRCh37]
Chr6:6q14.3
likely pathogenic
NM_153816.6(SNX14):c.1608+1G>C single nucleotide variant not provided [RCV000424791] Chr6:85536791 [GRCh38]
Chr6:86246509 [GRCh37]
Chr6:6q14.3
likely pathogenic
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31
pathogenic
NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs) insertion Autosomal recessive spinocerebellar ataxia 20 [RCV000416984] Chr6:85533701..85533702 [GRCh38]
Chr6:86243419..86243420 [GRCh37]
Chr6:6q14.3
pathogenic
NM_153816.6(SNX14):c.2557+1G>A single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV001824804]|not provided [RCV000481561] Chr6:85514069 [GRCh38]
Chr6:86223787 [GRCh37]
Chr6:6q14.3
likely pathogenic|not provided
NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer) deletion not provided [RCV000485240] Chr6:85507265..85507271 [GRCh38]
Chr6:86216983..86216989 [GRCh37]
Chr6:6q14.3
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6q14.3(chr6:85770403-87222520)x3 copy number gain See cases [RCV000510653] Chr6:85770403..87222520 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV000498500] Chr6:85547112 [GRCh38]
Chr6:86256830 [GRCh37]
Chr6:6q14.3
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV000662090] Chr6:85514180 [GRCh38]
Chr6:86223898 [GRCh37]
Chr6:6q14.3
uncertain significance
GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3 copy number gain not provided [RCV000682688] Chr6:81261418..97796269 [GRCh37]
Chr6:6q14.1-16.1
pathogenic
Single allele deletion not provided [RCV000677932] Chr6:83319012..91907669 [GRCh37]
Chr6:6q14.1-15
pathogenic
NM_153816.6(SNX14):c.1109-119G>A single nucleotide variant not provided [RCV001540804] Chr6:85543879 [GRCh38]
Chr6:86253597 [GRCh37]
Chr6:6q14.3
likely benign
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27
pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27
pathogenic
NM_153816.6(SNX14):c.2653+47G>A single nucleotide variant not provided [RCV001610924] Chr6:85513753 [GRCh38]
Chr6:86223471 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.867+145T>G single nucleotide variant not provided [RCV001679922] Chr6:85548156 [GRCh38]
Chr6:86257874 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.*205C>T single nucleotide variant not provided [RCV001571592] Chr6:85505762 [GRCh38]
Chr6:86215480 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.1109-123A>G single nucleotide variant not provided [RCV001679110] Chr6:85543883 [GRCh38]
Chr6:86253601 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.140+206C>T single nucleotide variant not provided [RCV001645975] Chr6:85593373 [GRCh38]
Chr6:86303091 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.1809A>G (p.Ala603=) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV000984899]|not provided [RCV002290495] Chr6:85533600 [GRCh38]
Chr6:86243318 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.868-8del deletion not provided [RCV000905992] Chr6:85547558 [GRCh38]
Chr6:86257276 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.516T>C (p.Phe172=) single nucleotide variant not provided [RCV000883208] Chr6:85565365 [GRCh38]
Chr6:86275083 [GRCh37]
Chr6:6q14.3
benign|likely benign
NM_153816.6(SNX14):c.994-5T>A single nucleotide variant not provided [RCV000923571] Chr6:85547231 [GRCh38]
Chr6:86256949 [GRCh37]
Chr6:6q14.3
benign|conflicting interpretations of pathogenicity
NM_153816.6(SNX14):c.1995+5A>T single nucleotide variant not provided [RCV000902225] Chr6:85528257 [GRCh38]
Chr6:86237975 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.2532G>A (p.Leu844=) single nucleotide variant not provided [RCV000885169] Chr6:85514095 [GRCh38]
Chr6:86223813 [GRCh37]
Chr6:6q14.3
benign|likely benign
NM_153816.6(SNX14):c.1075G>T (p.Ala359Ser) single nucleotide variant not provided [RCV000893992]|not specified [RCV002249573] Chr6:85547145 [GRCh38]
Chr6:86256863 [GRCh37]
Chr6:6q14.3
likely benign|uncertain significance
NM_153816.6(SNX14):c.1190A>G (p.Tyr397Cys) single nucleotide variant not provided [RCV000963190] Chr6:85543679 [GRCh38]
Chr6:86253397 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.9C>T (p.Pro3=) single nucleotide variant not provided [RCV000882723] Chr6:85593710 [GRCh38]
Chr6:86303428 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.264G>T (p.Gln88His) single nucleotide variant not provided [RCV000885446] Chr6:85572372 [GRCh38]
Chr6:86282090 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.418-6A>C single nucleotide variant not provided [RCV000887900] Chr6:85567583 [GRCh38]
Chr6:86277301 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV000785947] Chr6:85572333 [GRCh38]
Chr6:86282051 [GRCh37]
Chr6:6q14.3
likely pathogenic
GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1 copy number loss not provided [RCV001005826] Chr6:86024761..90023713 [GRCh37]
Chr6:6q14.3-15
pathogenic
NM_153816.6(SNX14):c.2746-83A>G single nucleotide variant not provided [RCV001608774] Chr6:85507372 [GRCh38]
Chr6:86217090 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.867+6A>C single nucleotide variant not provided [RCV000938679] Chr6:85548295 [GRCh38]
Chr6:86258013 [GRCh37]
Chr6:6q14.3
benign|conflicting interpretations of pathogenicity
NM_153816.6(SNX14):c.561A>G (p.Pro187=) single nucleotide variant not provided [RCV000938710] Chr6:85558049 [GRCh38]
Chr6:86267767 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.1725del (p.Phe575fs) deletion Autosomal recessive spinocerebellar ataxia 20 [RCV000984947] Chr6:85533684 [GRCh38]
Chr6:86243402 [GRCh37]
Chr6:6q14.3
likely pathogenic
GRCh37/hg19 6q14.3(chr6:86155642-86252892)x1 copy number loss not provided [RCV000849417] Chr6:86155642..86252892 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.1725dup (p.Glu576Ter) duplication not provided [RCV001008732] Chr6:85533683..85533684 [GRCh38]
Chr6:86243401..86243402 [GRCh37]
Chr6:6q14.3
pathogenic
NM_153816.6(SNX14):c.550-2454_634+1868del deletion Seizure [RCV001003859] Chr6:85556108..85560514 [GRCh38]
Chr6:86265826..86270232 [GRCh37]
Chr6:6q14.3
likely pathogenic
NM_153816.6(SNX14):c.1651G>T (p.Glu551Ter) single nucleotide variant not provided [RCV000998657] Chr6:85533758 [GRCh38]
Chr6:86243476 [GRCh37]
Chr6:6q14.3
likely pathogenic
NM_153816.6(SNX14):c.2745+53G>A single nucleotide variant not provided [RCV001576344] Chr6:85507915 [GRCh38]
Chr6:86217633 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.1390-91del deletion not provided [RCV001572108] Chr6:85542134 [GRCh38]
Chr6:86251852 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.140+57G>A single nucleotide variant not provided [RCV001568065] Chr6:85593522 [GRCh38]
Chr6:86303240 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.417+273C>T single nucleotide variant not provided [RCV001567465] Chr6:85571864 [GRCh38]
Chr6:86281582 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.261+127dup duplication not provided [RCV001636105] Chr6:85574119..85574120 [GRCh38]
Chr6:86283837..86283838 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.262-168T>A single nucleotide variant not provided [RCV001561419] Chr6:85572542 [GRCh38]
Chr6:86282260 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.1811-229C>G single nucleotide variant not provided [RCV001659255] Chr6:85530504 [GRCh38]
Chr6:86240222 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.1108+47A>C single nucleotide variant not provided [RCV001561908] Chr6:85547065 [GRCh38]
Chr6:86256783 [GRCh37]
Chr6:6q14.3
likely benign
Single allele single nucleotide variant not provided [RCV001592025] Chr6:85594044 [GRCh38]
Chr6:86303762 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.1894+43G>A single nucleotide variant not provided [RCV001551175] Chr6:85530149 [GRCh38]
Chr6:86239867 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.1995+183T>C single nucleotide variant not provided [RCV001671885] Chr6:85528079 [GRCh38]
Chr6:86237797 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.2268+31G>A single nucleotide variant not provided [RCV001590257] Chr6:85517725 [GRCh38]
Chr6:86227443 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.1476-67G>T single nucleotide variant not provided [RCV001694576] Chr6:85536991 [GRCh38]
Chr6:86246709 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.1389+159G>A single nucleotide variant not provided [RCV001587776] Chr6:85543023 [GRCh38]
Chr6:86252741 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.141-9_141-6del microsatellite not provided [RCV001621884] Chr6:85574384..85574387 [GRCh38]
Chr6:86284102..86284105 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.262-193_262-187dup duplication not provided [RCV001647792] Chr6:85572560..85572561 [GRCh38]
Chr6:86282278..86282279 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.1996-233G>T single nucleotide variant not provided [RCV001685788] Chr6:85526470 [GRCh38]
Chr6:86236188 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.550-12G>A single nucleotide variant not provided [RCV001547882] Chr6:85558072 [GRCh38]
Chr6:86267790 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.1009T>C (p.Leu337=) single nucleotide variant not provided [RCV000895005] Chr6:85547211 [GRCh38]
Chr6:86256929 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.2412T>G (p.Val804=) single nucleotide variant not provided [RCV000972149] Chr6:85514215 [GRCh38]
Chr6:86223933 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.1239C>T (p.Pro413=) single nucleotide variant not provided [RCV000969987] Chr6:85543630 [GRCh38]
Chr6:86253348 [GRCh37]
Chr6:6q14.3
benign|likely benign
NM_153816.6(SNX14):c.1074C>T (p.Gly358=) single nucleotide variant not provided [RCV000895296] Chr6:85547146 [GRCh38]
Chr6:86256864 [GRCh37]
Chr6:6q14.3
likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 6q14.3(chr6:85852930-86514050)x4 copy number gain Intellectual disability [RCV001250264] Chr6:85852930..86514050 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.99C>T (p.Phe33=) single nucleotide variant not provided [RCV000911794] Chr6:85593620 [GRCh38]
Chr6:86303338 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.140+4A>G single nucleotide variant not provided [RCV001557728] Chr6:85593575 [GRCh38]
Chr6:86303293 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.*302G>A single nucleotide variant not provided [RCV001557793] Chr6:85505665 [GRCh38]
Chr6:86215383 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.1608+1G>T single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV000987749] Chr6:85536791 [GRCh38]
Chr6:86246509 [GRCh37]
Chr6:6q14.3
pathogenic
NM_153816.6(SNX14):c.1109-188dup duplication not provided [RCV001813883] Chr6:85543947..85543948 [GRCh38]
Chr6:86253665..86253666 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.1476-232_1476-229del microsatellite not provided [RCV001559569] Chr6:85537153..85537156 [GRCh38]
Chr6:86246871..86246874 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.261+158C>T single nucleotide variant not provided [RCV001553295] Chr6:85574100 [GRCh38]
Chr6:86283818 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.261+190TAT[2] microsatellite not provided [RCV001669464] Chr6:85574060..85574062 [GRCh38]
Chr6:86283778..86283780 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.461+132A>G single nucleotide variant not provided [RCV001564349] Chr6:85567402 [GRCh38]
Chr6:86277120 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.1810+254A>G single nucleotide variant not provided [RCV001560408] Chr6:85533345 [GRCh38]
Chr6:86243063 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.2269-167C>T single nucleotide variant not provided [RCV001555383] Chr6:85514796 [GRCh38]
Chr6:86224514 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.635-188G>T single nucleotide variant not provided [RCV001576519] Chr6:85550067 [GRCh38]
Chr6:86259785 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.1449-264C>A single nucleotide variant not provided [RCV001567076] Chr6:85539128 [GRCh38]
Chr6:86248846 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.1475+96A>G single nucleotide variant not provided [RCV001608373] Chr6:85538742 [GRCh38]
Chr6:86248460 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.295C>T (p.His99Tyr) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV001723254] Chr6:85572341 [GRCh38]
Chr6:86282059 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.261+127_261+128dup duplication not provided [RCV001616166] Chr6:85574119..85574120 [GRCh38]
Chr6:86283837..86283838 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.791+236T>C single nucleotide variant not provided [RCV001678412] Chr6:85549487 [GRCh38]
Chr6:86259205 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.2653+202A>G single nucleotide variant not provided [RCV001595533] Chr6:85513598 [GRCh38]
Chr6:86223316 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.2746-72T>C single nucleotide variant not provided [RCV001620408] Chr6:85507361 [GRCh38]
Chr6:86217079 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.1811-154C>T single nucleotide variant not provided [RCV001637718] Chr6:85530429 [GRCh38]
Chr6:86240147 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.1475+171A>G single nucleotide variant not provided [RCV001545798] Chr6:85538667 [GRCh38]
Chr6:86248385 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.2653+205C>T single nucleotide variant not provided [RCV001638214] Chr6:85513595 [GRCh38]
Chr6:86223313 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.907A>C (p.Ser303Arg) single nucleotide variant not provided [RCV001598997] Chr6:85547511 [GRCh38]
Chr6:86257229 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.2803-174G>A single nucleotide variant not provided [RCV001694338] Chr6:85506179 [GRCh38]
Chr6:86215897 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.*252GA[1] microsatellite not provided [RCV001587510] Chr6:85505712..85505713 [GRCh38]
Chr6:86215430..86215431 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.2108-113T>C single nucleotide variant not provided [RCV001650742] Chr6:85518161 [GRCh38]
Chr6:86227879 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.1108+128dup duplication not provided [RCV001696008] Chr6:85546965..85546966 [GRCh38]
Chr6:86256683..86256684 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.549+220_549+221insTGTT insertion not provided [RCV001616082] Chr6:85565111..85565112 [GRCh38]
Chr6:86274829..86274830 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.791+128T>A single nucleotide variant not provided [RCV001615443] Chr6:85549595 [GRCh38]
Chr6:86259313 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.140+153G>C single nucleotide variant not provided [RCV001671456] Chr6:85593426 [GRCh38]
Chr6:86303144 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.868-267G>T single nucleotide variant not provided [RCV001685901] Chr6:85547817 [GRCh38]
Chr6:86257535 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.1811-15G>A single nucleotide variant not provided [RCV001714150] Chr6:85530290 [GRCh38]
Chr6:86240008 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.141-59G>A single nucleotide variant not provided [RCV001668657] Chr6:85574437 [GRCh38]
Chr6:86284155 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.1995+181C>T single nucleotide variant not provided [RCV001690270] Chr6:85528081 [GRCh38]
Chr6:86237799 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.261+124_261+126del deletion not provided [RCV001682425] Chr6:85574132..85574134 [GRCh38]
Chr6:86283850..86283852 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.2745+238C>A single nucleotide variant not provided [RCV001684734] Chr6:85507730 [GRCh38]
Chr6:86217448 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.461+182del deletion not provided [RCV001647745] Chr6:85567352 [GRCh38]
Chr6:86277070 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV001198150] Chr6:85543271 [GRCh38]
Chr6:86252989 [GRCh37]
Chr6:6q14.3
likely pathogenic
NM_153816.6(SNX14):c.119C>T (p.Ala40Val) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV001333017] Chr6:85593600 [GRCh38]
Chr6:86303318 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.131T>C (p.Leu44Pro) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV001333018] Chr6:85593588 [GRCh38]
Chr6:86303306 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.2745+53G>T single nucleotide variant not provided [RCV001546021] Chr6:85507915 [GRCh38]
Chr6:86217633 [GRCh37]
Chr6:6q14.3
likely benign
NM_153816.6(SNX14):c.140+9G>A single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV001333019] Chr6:85593570 [GRCh38]
Chr6:86303288 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.1476-8A>G single nucleotide variant Neurodevelopmental disorder [RCV001374928] Chr6:85536932 [GRCh38]
Chr6:86246650 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.512del (p.Arg171fs) deletion Neurodevelopmental disorder [RCV001374927] Chr6:85565369 [GRCh38]
Chr6:86275087 [GRCh37]
Chr6:6q14.3
likely pathogenic
NM_153816.6(SNX14):c.2410G>A (p.Val804Ile) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV001328721]|not provided [RCV001597267] Chr6:85514217 [GRCh38]
Chr6:86223935 [GRCh37]
Chr6:6q14.3
likely benign|uncertain significance
NM_153816.6(SNX14):c.2674G>A (p.Gly892Ser) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV001328722] Chr6:85508039 [GRCh38]
Chr6:86217757 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.913C>A (p.Pro305Thr) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV001328723] Chr6:85547397 [GRCh38]
Chr6:86257115 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.2395C>T (p.Arg799Trp) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV001335507]|not provided [RCV001751655] Chr6:85514232 [GRCh38]
Chr6:86223950 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.1358T>C (p.Val453Ala) single nucleotide variant not provided [RCV001318370] Chr6:85543213 [GRCh38]
Chr6:86252931 [GRCh37]
Chr6:6q14.3
uncertain significance
NC_000006.11:g.(?_86252900)_(86259597_?)dup duplication not provided [RCV001377974] Chr6:86252900..86259597 [GRCh37]
Chr6:6q14.3
likely pathogenic
NM_153816.6(SNX14):c.1476-82dup duplication not provided [RCV001715045] Chr6:85536998..85536999 [GRCh38]
Chr6:86246716..86246717 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.932C>T (p.Pro311Leu) single nucleotide variant not provided [RCV001590878] Chr6:85547378 [GRCh38]
Chr6:86257096 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.1389+226A>G single nucleotide variant not provided [RCV001713924] Chr6:85542956 [GRCh38]
Chr6:86252674 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.2393-101A>C single nucleotide variant not provided [RCV001694643] Chr6:85514335 [GRCh38]
Chr6:86224053 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.1895-22C>A single nucleotide variant not provided [RCV001654816] Chr6:85528384 [GRCh38]
Chr6:86238102 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.261+140dup duplication not provided [RCV001687043] Chr6:85574110..85574111 [GRCh38]
Chr6:86283828..86283829 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.2654-281dup duplication not provided [RCV001654298] Chr6:85508320..85508321 [GRCh38]
Chr6:86218038..86218039 [GRCh37]
Chr6:6q14.3
benign
NM_153816.6(SNX14):c.2259CAA[1] (p.Asn754del) microsatellite not provided [RCV001754904] Chr6:85517760..85517762 [GRCh38]
Chr6:86227478..86227480 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.867+1G>T single nucleotide variant Cerebellar ataxia [RCV001775502] Chr6:85548300 [GRCh38]
Chr6:86258018 [GRCh37]
Chr6:6q14.3
likely pathogenic
NM_153816.6(SNX14):c.800C>A (p.Thr267Asn) single nucleotide variant not provided [RCV002273396] Chr6:85548368 [GRCh38]
Chr6:86258086 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV001783786] Chr6:85574267 [GRCh38]
Chr6:86283985 [GRCh37]
Chr6:6q14.3
likely pathogenic
NM_153816.6(SNX14):c.572C>A (p.Thr191Asn) single nucleotide variant Autosomal recessive spinocerebellar ataxia 20 [RCV001788838]|not provided [RCV001786072] Chr6:85558038 [GRCh38]
Chr6:86267756 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.1075G>A (p.Ala359Thr) single nucleotide variant not provided [RCV001773249] Chr6:85547145 [GRCh38]
Chr6:86256863 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.1832G>C (p.Trp611Ser) single nucleotide variant not provided [RCV001800021] Chr6:85530254 [GRCh38]
Chr6:86239972 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.159G>T (p.Met53Ile) single nucleotide variant not provided [RCV001779665] Chr6:85574360 [GRCh38]
Chr6:86284078 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.2524C>T (p.His842Tyr) single nucleotide variant not provided [RCV001816433] Chr6:85514103 [GRCh38]
Chr6:86223821 [GRCh37]
Chr6:6q14.3
uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) copy number loss not specified [RCV002053595] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31
pathogenic
GRCh37/hg19 6q12-16.1(chr6:69938252-94379210) copy number gain not specified [RCV002053581] Chr6:69938252..94379210 [GRCh37]
Chr6:6q12-16.1
pathogenic
GRCh37/hg19 6q14.1-15(chr6:83141523-88023466)x1 copy number loss not provided [RCV001829074] Chr6:83141523..88023466 [GRCh37]
Chr6:6q14.1-15
pathogenic
NM_153816.6(SNX14):c.913-1G>T single nucleotide variant not provided [RCV002027862] Chr6:85547398 [GRCh38]
Chr6:86257116 [GRCh37]
Chr6:6q14.3
likely pathogenic
NM_153816.6(SNX14):c.1811-31G>A single nucleotide variant not provided [RCV002224587] Chr6:85530306 [GRCh38]
Chr6:86240024 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.1690G>A (p.Ala564Thr) single nucleotide variant not provided [RCV002278918] Chr6:85533719 [GRCh38]
Chr6:86243437 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.2149-4del deletion not provided [RCV002274724] Chr6:85517879 [GRCh38]
Chr6:86227597 [GRCh37]
Chr6:6q14.3
uncertain significance
GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1 copy number loss See cases [RCV002292710] Chr6:78911022..98909173 [GRCh37]
Chr6:6q14.1-16.1
uncertain significance
NM_153816.6(SNX14):c.125C>G (p.Ser42Cys) single nucleotide variant not provided [RCV002285927] Chr6:85593594 [GRCh38]
Chr6:86303312 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.794C>T (p.Ser265Phe) single nucleotide variant not provided [RCV002296111] Chr6:85548374 [GRCh38]
Chr6:86258092 [GRCh37]
Chr6:6q14.3
uncertain significance
NM_153816.6(SNX14):c.2280T>G (p.Asp760Glu) single nucleotide variant not provided [RCV002296859] Chr6:85514618 [GRCh38]
Chr6:86224336 [GRCh37]
Chr6:6q14.3
uncertain significance
GRCh37/hg19 6q14.3-15(chr6:86098133-88663964)x3 copy number gain not provided [RCV002474634] Chr6:86098133..88663964 [GRCh37]
Chr6:6q14.3-15
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2089
Count of miRNA genes:786
Interacting mature miRNAs:905
Transcripts:ENST00000314673, ENST00000346348, ENST00000369627, ENST00000369635, ENST00000418862, ENST00000474645, ENST00000503491, ENST00000503608, ENST00000504191, ENST00000505648, ENST00000506182, ENST00000508658, ENST00000508980, ENST00000509338, ENST00000513865, ENST00000513869, ENST00000514419, ENST00000514801, ENST00000515216
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.

Markers in Region
SHGC-144447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37686,300,766 - 86,301,053UniSTSGRCh37
Build 36686,357,485 - 86,357,772RGDNCBI36
Celera686,727,966 - 86,728,251RGD
Cytogenetic Map6q14.3UniSTS
HuRef683,525,065 - 83,525,350UniSTS
TNG Radiation Hybrid Map640865.0UniSTS
SHGC-37370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37686,217,888 - 86,218,038UniSTSGRCh37
Build 36686,274,607 - 86,274,757RGDNCBI36
Celera686,645,070 - 86,645,220RGD
Cytogenetic Map6q14.3UniSTS
HuRef683,442,173 - 83,442,323UniSTS
TNG Radiation Hybrid Map640833.0UniSTS
GeneMap99-G3 RH Map64044.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2364 1646 1563 479 1354 325 3456 967 2715 366 1441 1594 170 1 1184 1958 5 1
Low 75 1340 163 145 592 140 901 1230 1019 53 19 19 5 20 830 1 1
Below cutoff 5 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001297614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001304479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_146779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF121863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL589666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY044865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC095419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI458735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI463232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB054302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA491624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC310382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000314673   ⟹   ENSP00000313121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,496 - 85,593,858 (-)Ensembl
RefSeq Acc Id: ENST00000346348   ⟹   ENSP00000257769
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,496 - 85,593,913 (-)Ensembl
RefSeq Acc Id: ENST00000369627   ⟹   ENSP00000358641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,802 - 85,593,850 (-)Ensembl
RefSeq Acc Id: ENST00000369635   ⟹   ENSP00000358649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,514,355 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000418862   ⟹   ENSP00000391981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,493 - 85,530,225 (-)Ensembl
RefSeq Acc Id: ENST00000474645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,798 - 85,508,457 (-)Ensembl
RefSeq Acc Id: ENST00000503491
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,806 - 85,568,483 (-)Ensembl
RefSeq Acc Id: ENST00000503608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,517,569 - 85,533,680 (-)Ensembl
RefSeq Acc Id: ENST00000504191
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,547,402 - 85,549,758 (-)Ensembl
RefSeq Acc Id: ENST00000505648   ⟹   ENSP00000427380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,798 - 85,594,156 (-)Ensembl
RefSeq Acc Id: ENST00000506182
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,528,264 - 85,543,787 (-)Ensembl
RefSeq Acc Id: ENST00000508658   ⟹   ENSP00000422814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,823 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000508980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,799 - 85,581,846 (-)Ensembl
RefSeq Acc Id: ENST00000509338   ⟹   ENSP00000424302
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,528 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000513865   ⟹   ENSP00000420938
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,793 - 85,593,805 (-)Ensembl
RefSeq Acc Id: ENST00000513869   ⟹   ENSP00000426806
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,541,873 - 85,594,063 (-)Ensembl
RefSeq Acc Id: ENST00000514419   ⟹   ENSP00000425387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,546,985 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000514801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,537,616 (-)Ensembl
RefSeq Acc Id: ENST00000515216   ⟹   ENSP00000425630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,528 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000681981   ⟹   ENSP00000507672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,528 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000682022   ⟹   ENSP00000508118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000682023   ⟹   ENSP00000507998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000682034   ⟹   ENSP00000506724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000682057   ⟹   ENSP00000507883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,877 (-)Ensembl
RefSeq Acc Id: ENST00000682133   ⟹   ENSP00000507001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,520 - 85,593,857 (-)Ensembl
RefSeq Acc Id: ENST00000682168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,541,028 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000682171   ⟹   ENSP00000508327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,594,101 (-)Ensembl
RefSeq Acc Id: ENST00000682174   ⟹   ENSP00000507248
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,878 (-)Ensembl
RefSeq Acc Id: ENST00000682374   ⟹   ENSP00000507425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,877 (-)Ensembl
RefSeq Acc Id: ENST00000682412   ⟹   ENSP00000507297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,718 (-)Ensembl
RefSeq Acc Id: ENST00000682454   ⟹   ENSP00000507851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,785 (-)Ensembl
RefSeq Acc Id: ENST00000682455   ⟹   ENSP00000507586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000682464   ⟹   ENSP00000507625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,550 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000682491   ⟹   ENSP00000506970
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,885 (-)Ensembl
RefSeq Acc Id: ENST00000682497   ⟹   ENSP00000507869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,901 (-)Ensembl
RefSeq Acc Id: ENST00000682514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,550 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000682594
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,520 - 85,593,785 (-)Ensembl
RefSeq Acc Id: ENST00000682633   ⟹   ENSP00000507843
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,520 - 85,594,046 (-)Ensembl
RefSeq Acc Id: ENST00000682660   ⟹   ENSP00000507539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,528 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000682682   ⟹   ENSP00000507777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,083 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000682688   ⟹   ENSP00000507097
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,520 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000682694   ⟹   ENSP00000507387
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,785 (-)Ensembl
RefSeq Acc Id: ENST00000682709
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,520 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000682738   ⟹   ENSP00000507742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,528 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000682776   ⟹   ENSP00000507490
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,892 (-)Ensembl
RefSeq Acc Id: ENST00000682854   ⟹   ENSP00000507257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,889 (-)Ensembl
RefSeq Acc Id: ENST00000682878   ⟹   ENSP00000507360
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,861 (-)Ensembl
RefSeq Acc Id: ENST00000682926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,534,815 (-)Ensembl
RefSeq Acc Id: ENST00000682939   ⟹   ENSP00000506902
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,877 (-)Ensembl
RefSeq Acc Id: ENST00000682991   ⟹   ENSP00000508193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000682995   ⟹   ENSP00000506807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,877 (-)Ensembl
RefSeq Acc Id: ENST00000683073   ⟹   ENSP00000507270
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,528 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683085   ⟹   ENSP00000507993
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,520 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683097   ⟹   ENSP00000507556
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,918 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683126   ⟹   ENSP00000507507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683195   ⟹   ENSP00000508190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,877 (-)Ensembl
RefSeq Acc Id: ENST00000683196   ⟹   ENSP00000508297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,938 (-)Ensembl
RefSeq Acc Id: ENST00000683458   ⟹   ENSP00000508204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,523 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683479   ⟹   ENSP00000507368
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,537 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683481   ⟹   ENSP00000507015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683541   ⟹   ENSP00000507116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,918 - 85,593,871 (-)Ensembl
RefSeq Acc Id: ENST00000683542   ⟹   ENSP00000506893
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683577   ⟹   ENSP00000507516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,520 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683583   ⟹   ENSP00000507244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683643   ⟹   ENSP00000507444
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683698   ⟹   ENSP00000507000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,813 (-)Ensembl
RefSeq Acc Id: ENST00000683726   ⟹   ENSP00000507744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,594,063 (-)Ensembl
RefSeq Acc Id: ENST00000683727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,560,017 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683754   ⟹   ENSP00000507707
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683759
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,507,507 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,528 - 85,526,930 (-)Ensembl
RefSeq Acc Id: ENST00000683785   ⟹   ENSP00000507188
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,951 (-)Ensembl
RefSeq Acc Id: ENST00000683803   ⟹   ENSP00000508216
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683857   ⟹   ENSP00000508015
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000683873   ⟹   ENSP00000506829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,891 (-)Ensembl
RefSeq Acc Id: ENST00000683878   ⟹   ENSP00000507449
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,886 (-)Ensembl
RefSeq Acc Id: ENST00000683880   ⟹   ENSP00000508357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,857 (-)Ensembl
RefSeq Acc Id: ENST00000683898   ⟹   ENSP00000506897
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,895 (-)Ensembl
RefSeq Acc Id: ENST00000683999
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,547,023 - 85,593,778 (-)Ensembl
RefSeq Acc Id: ENST00000684017
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,550 - 85,593,877 (-)Ensembl
RefSeq Acc Id: ENST00000684108
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,550 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000684118   ⟹   ENSP00000507950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,528 - 85,593,901 (-)Ensembl
RefSeq Acc Id: ENST00000684150   ⟹   ENSP00000507401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,594,063 (-)Ensembl
RefSeq Acc Id: ENST00000684183
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,589,253 - 85,593,877 (-)Ensembl
RefSeq Acc Id: ENST00000684239   ⟹   ENSP00000507479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,877 (-)Ensembl
RefSeq Acc Id: ENST00000684273   ⟹   ENSP00000508063
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,664 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000684281   ⟹   ENSP00000507932
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000684299   ⟹   ENSP00000507637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,520 - 85,593,892 (-)Ensembl
RefSeq Acc Id: ENST00000684319   ⟹   ENSP00000508346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,520 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000684422   ⟹   ENSP00000507146
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,778 (-)Ensembl
RefSeq Acc Id: ENST00000684451   ⟹   ENSP00000507384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000684570   ⟹   ENSP00000508127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,877 (-)Ensembl
RefSeq Acc Id: ENST00000684581   ⟹   ENSP00000507294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,528 - 85,593,857 (-)Ensembl
RefSeq Acc Id: ENST00000684647   ⟹   ENSP00000506873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,776 - 85,593,897 (-)Ensembl
RefSeq Acc Id: ENST00000684680   ⟹   ENSP00000507491
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,504,995 - 85,593,986 (-)Ensembl
RefSeq Acc Id: ENST00000684717   ⟹   ENSP00000507024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl685,505,528 - 85,593,897 (-)Ensembl
RefSeq Acc Id: NM_001297614   ⟹   NP_001284543
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
CHM1_1686,313,156 - 86,401,767 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001304479   ⟹   NP_001291408
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
CHM1_1686,313,156 - 86,401,767 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350532   ⟹   NP_001337461
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350533   ⟹   NP_001337462
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350534   ⟹   NP_001337463
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350535   ⟹   NP_001337464
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350536   ⟹   NP_001337465
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350537   ⟹   NP_001337466
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350538   ⟹   NP_001337467
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350539   ⟹   NP_001337468
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350540   ⟹   NP_001337469
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350541   ⟹   NP_001337470
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350542   ⟹   NP_001337471
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350543   ⟹   NP_001337472
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350544   ⟹   NP_001337473
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350545   ⟹   NP_001337474
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350546   ⟹   NP_001337475
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350547   ⟹   NP_001337476
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350548   ⟹   NP_001337477
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350549   ⟹   NP_001337478
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350550   ⟹   NP_001337479
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350551   ⟹   NP_001337480
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350552   ⟹   NP_001337481
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350553   ⟹   NP_001337482
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020468   ⟹   NP_065201
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
GRCh37686,215,214 - 86,303,850 (-)NCBI
Build 36686,271,933 - 86,360,348 (-)NCBI Archive
Celera686,642,396 - 86,730,827 (-)RGD
HuRef683,439,499 - 83,527,927 (-)RGD
CHM1_1686,313,156 - 86,401,767 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NM_153816   ⟹   NP_722523
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
GRCh37686,215,214 - 86,303,850 (-)NCBI
Build 36686,271,933 - 86,360,348 (-)NCBI Archive
Celera686,642,396 - 86,730,827 (-)RGD
HuRef683,439,499 - 83,527,927 (-)RGD
CHM1_1686,313,156 - 86,401,767 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146774
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146775
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146776
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146777
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146778
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: NR_146779
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
T2T-CHM13v2.0686,722,300 - 86,810,666 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011535977   ⟹   XP_011534279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,508,320 - 85,593,858 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017011090   ⟹   XP_016866579
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,581,258 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047419120   ⟹   XP_047275076
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,100 (-)NCBI
RefSeq Acc Id: XM_047419121   ⟹   XP_047275077
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
RefSeq Acc Id: XM_047419122   ⟹   XP_047275078
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,581,258 (-)NCBI
RefSeq Acc Id: XM_047419123   ⟹   XP_047275079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
RefSeq Acc Id: XM_047419124   ⟹   XP_047275080
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,581,258 (-)NCBI
RefSeq Acc Id: XM_047419125   ⟹   XP_047275081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,507,968 - 85,593,858 (-)NCBI
RefSeq Acc Id: XM_047419126   ⟹   XP_047275082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,581,258 (-)NCBI
RefSeq Acc Id: XM_047419127   ⟹   XP_047275083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
RefSeq Acc Id: XM_047419128   ⟹   XP_047275084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,593,858 (-)NCBI
RefSeq Acc Id: XM_047419129   ⟹   XP_047275085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,505,496 - 85,581,258 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001284543 (Get FASTA)   NCBI Sequence Viewer  
  NP_001291408 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337461 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337462 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337463 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337464 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337465 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337466 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337467 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337468 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337469 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337470 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337471 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337472 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337473 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337474 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337475 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337476 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337477 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337478 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337479 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337480 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337481 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337482 (Get FASTA)   NCBI Sequence Viewer  
  NP_065201 (Get FASTA)   NCBI Sequence Viewer  
  NP_722523 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534279 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866579 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275076 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275077 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275078 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275079 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275080 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275081 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275082 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275083 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275084 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275085 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD27836 (Get FASTA)   NCBI Sequence Viewer  
  AAH05110 (Get FASTA)   NCBI Sequence Viewer  
  AAH46520 (Get FASTA)   NCBI Sequence Viewer  
  AAH68589 (Get FASTA)   NCBI Sequence Viewer  
  AAH95419 (Get FASTA)   NCBI Sequence Viewer  
  AAK97796 (Get FASTA)   NCBI Sequence Viewer  
  BAG58367 (Get FASTA)   NCBI Sequence Viewer  
  EAW48631 (Get FASTA)   NCBI Sequence Viewer  
  EAW48632 (Get FASTA)   NCBI Sequence Viewer  
  EAW48633 (Get FASTA)   NCBI Sequence Viewer  
  Q9Y5W7 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_065201   ⟸   NM_020468
- Peptide Label: isoform b
- UniProtKB: Q9Y5W7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_722523   ⟸   NM_153816
- Peptide Label: isoform a
- UniProtKB: Q9BSD1 (UniProtKB/Swiss-Prot),   Q9Y5W7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001291408   ⟸   NM_001304479
- Peptide Label: isoform d
- UniProtKB: Q9Y5W7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001284543   ⟸   NM_001297614
- Peptide Label: isoform c
- UniProtKB: Q9Y5W7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011534279   ⟸   XM_011535977
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016866579   ⟸   XM_017011090
- Peptide Label: isoform X3
- UniProtKB: A0A804HJ91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337472   ⟸   NM_001350543
- Peptide Label: isoform p precursor
- UniProtKB: A0A804HI30 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337468   ⟸   NM_001350539
- Peptide Label: isoform l precursor
- UniProtKB: A0A804HJ91 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337471   ⟸   NM_001350542
- Peptide Label: isoform o precursor
- UniProtKB: A0A804HIA1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337475   ⟸   NM_001350546
- Peptide Label: isoform r
- Sequence:
RefSeq Acc Id: NP_001337476   ⟸   NM_001350547
- Peptide Label: isoform s
- Sequence:
RefSeq Acc Id: NP_001337473   ⟸   NM_001350544
- Peptide Label: isoform q precursor
- Sequence:
RefSeq Acc Id: NP_001337482   ⟸   NM_001350553
- Peptide Label: isoform u
- Sequence:
RefSeq Acc Id: NP_001337478   ⟸   NM_001350549
- Peptide Label: isoform t
- Sequence:
RefSeq Acc Id: NP_001337466   ⟸   NM_001350537
- Peptide Label: isoform j
- UniProtKB: A0A804HIR3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337463   ⟸   NM_001350534
- Peptide Label: isoform g
- Sequence:
RefSeq Acc Id: NP_001337464   ⟸   NM_001350535
- Peptide Label: isoform h
- UniProtKB: A0A804HKJ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337462   ⟸   NM_001350533
- Peptide Label: isoform f
- UniProtKB: A0A804HKC6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337477   ⟸   NM_001350548
- Peptide Label: isoform t
- Sequence:
RefSeq Acc Id: NP_001337465   ⟸   NM_001350536
- Peptide Label: isoform i
- UniProtKB: A0A804HJC6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337474   ⟸   NM_001350545
- Peptide Label: isoform r
- Sequence:
RefSeq Acc Id: NP_001337480   ⟸   NM_001350551
- Peptide Label: isoform t
- Sequence:
RefSeq Acc Id: NP_001337467   ⟸   NM_001350538
- Peptide Label: isoform k
- Sequence:
RefSeq Acc Id: NP_001337479   ⟸   NM_001350550
- Peptide Label: isoform t
- Sequence:
RefSeq Acc Id: NP_001337470   ⟸   NM_001350541
- Peptide Label: isoform n
- UniProtKB: A0A804HK22 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337469   ⟸   NM_001350540
- Peptide Label: isoform m
- UniProtKB: A0A804HK55 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001337481   ⟸   NM_001350552
- Peptide Label: isoform t
- Sequence:
RefSeq Acc Id: NP_001337461   ⟸   NM_001350532
- Peptide Label: isoform e
- UniProtKB: A0A804HKZ1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000257769   ⟸   ENST00000346348
RefSeq Acc Id: ENSP00000427380   ⟸   ENST00000505648
RefSeq Acc Id: ENSP00000422814   ⟸   ENST00000508658
RefSeq Acc Id: ENSP00000424302   ⟸   ENST00000509338
RefSeq Acc Id: ENSP00000391981   ⟸   ENST00000418862
RefSeq Acc Id: ENSP00000313121   ⟸   ENST00000314673
RefSeq Acc Id: ENSP00000358649   ⟸   ENST00000369635
RefSeq Acc Id: ENSP00000358641   ⟸   ENST00000369627
RefSeq Acc Id: ENSP00000420938   ⟸   ENST00000513865
RefSeq Acc Id: ENSP00000426806   ⟸   ENST00000513869
RefSeq Acc Id: ENSP00000425387   ⟸   ENST00000514419
RefSeq Acc Id: ENSP00000425630   ⟸   ENST00000515216
RefSeq Acc Id: ENSP00000507490   ⟸   ENST00000682776
RefSeq Acc Id: ENSP00000508357   ⟸   ENST00000683880
RefSeq Acc Id: ENSP00000507097   ⟸   ENST00000682688
RefSeq Acc Id: ENSP00000507507   ⟸   ENST00000683126
RefSeq Acc Id: ENSP00000507000   ⟸   ENST00000683698
RefSeq Acc Id: ENSP00000508216   ⟸   ENST00000683803
RefSeq Acc Id: ENSP00000508015   ⟸   ENST00000683857
RefSeq Acc Id: ENSP00000508193   ⟸   ENST00000682991
RefSeq Acc Id: ENSP00000507401   ⟸   ENST00000684150
RefSeq Acc Id: ENSP00000507491   ⟸   ENST00000684680
RefSeq Acc Id: ENSP00000507244   ⟸   ENST00000683583
RefSeq Acc Id: ENSP00000508063   ⟸   ENST00000684273
RefSeq Acc Id: ENSP00000507146   ⟸   ENST00000684422
RefSeq Acc Id: ENSP00000507001   ⟸   ENST00000682133
RefSeq Acc Id: ENSP00000507449   ⟸   ENST00000683878
RefSeq Acc Id: ENSP00000507707   ⟸   ENST00000683754
RefSeq Acc Id: ENSP00000507851   ⟸   ENST00000682454
RefSeq Acc Id: ENSP00000507586   ⟸   ENST00000682455
RefSeq Acc Id: ENSP00000506902   ⟸   ENST00000682939
RefSeq Acc Id: ENSP00000507360   ⟸   ENST00000682878
RefSeq Acc Id: ENSP00000507368   ⟸   ENST00000683479
RefSeq Acc Id: ENSP00000507744   ⟸   ENST00000683726
RefSeq Acc Id: ENSP00000507257   ⟸   ENST00000682854
RefSeq Acc Id: ENSP00000508127   ⟸   ENST00000684570
RefSeq Acc Id: ENSP00000507625   ⟸   ENST00000682464
RefSeq Acc Id: ENSP00000507950   ⟸   ENST00000684118
RefSeq Acc Id: ENSP00000507479   ⟸   ENST00000684239
RefSeq Acc Id: ENSP00000507843   ⟸   ENST00000682633
RefSeq Acc Id: ENSP00000506970   ⟸   ENST00000682491
RefSeq Acc Id: ENSP00000507742   ⟸   ENST00000682738
RefSeq Acc Id: ENSP00000507270   ⟸   ENST00000683073
RefSeq Acc Id: ENSP00000506897   ⟸   ENST00000683898
RefSeq Acc Id: ENSP00000507539   ⟸   ENST00000682660
RefSeq Acc Id: ENSP00000508297   ⟸   ENST00000683196
RefSeq Acc Id: ENSP00000506724   ⟸   ENST00000682034
RefSeq Acc Id: ENSP00000506829   ⟸   ENST00000683873
RefSeq Acc Id: ENSP00000507993   ⟸   ENST00000683085
RefSeq Acc Id: ENSP00000508118   ⟸   ENST00000682022
RefSeq Acc Id: ENSP00000508204   ⟸   ENST00000683458
RefSeq Acc Id: ENSP00000506893   ⟸   ENST00000683542
RefSeq Acc Id: ENSP00000507556   ⟸   ENST00000683097
RefSeq Acc Id: ENSP00000507188   ⟸   ENST00000683785
RefSeq Acc Id: ENSP00000507869   ⟸   ENST00000682497
RefSeq Acc Id: ENSP00000507116   ⟸   ENST00000683541
RefSeq Acc Id: ENSP00000507294   ⟸   ENST00000684581
RefSeq Acc Id: ENSP00000507387   ⟸   ENST00000682694
RefSeq Acc Id: ENSP00000507444   ⟸   ENST00000683643
RefSeq Acc Id: ENSP00000508346   ⟸   ENST00000684319
RefSeq Acc Id: ENSP00000507637   ⟸   ENST00000684299
RefSeq Acc Id: ENSP00000507516   ⟸   ENST00000683577
RefSeq Acc Id: ENSP00000507672   ⟸   ENST00000681981
RefSeq Acc Id: ENSP00000507425   ⟸   ENST00000682374
RefSeq Acc Id: ENSP00000507932   ⟸   ENST00000684281
RefSeq Acc Id: ENSP00000506807   ⟸   ENST00000682995
RefSeq Acc Id: ENSP00000507024   ⟸   ENST00000684717
RefSeq Acc Id: ENSP00000507248   ⟸   ENST00000682174
RefSeq Acc Id: ENSP00000507777   ⟸   ENST00000682682
RefSeq Acc Id: ENSP00000508190   ⟸   ENST00000683195
RefSeq Acc Id: ENSP00000508327   ⟸   ENST00000682171
RefSeq Acc Id: ENSP00000506873   ⟸   ENST00000684647
RefSeq Acc Id: ENSP00000507297   ⟸   ENST00000682412
RefSeq Acc Id: ENSP00000507998   ⟸   ENST00000682023
RefSeq Acc Id: ENSP00000507015   ⟸   ENST00000683481
RefSeq Acc Id: ENSP00000507883   ⟸   ENST00000682057
RefSeq Acc Id: ENSP00000507384   ⟸   ENST00000684451
RefSeq Acc Id: XP_047275084   ⟸   XM_047419128
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047275083   ⟸   XM_047419127
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047275079   ⟸   XM_047419123
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047275077   ⟸   XM_047419121
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047275076   ⟸   XM_047419120
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047275085   ⟸   XM_047419129
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047275080   ⟸   XM_047419124
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047275082   ⟸   XM_047419126
- Peptide Label: isoform X8
- UniProtKB: A0A804HIA1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275078   ⟸   XM_047419122
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047275081   ⟸   XM_047419125
- Peptide Label: isoform X7
Protein Domains
Nexin_C   PX   PXA   RGS

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5W7-F1-model_v2 AlphaFold Q9Y5W7 1-946 view protein structure

Promoters
RGD ID:7208619
Promoter ID:EPDNEW_H10055
Type:initiation region
Name:SNX14_1
Description:sorting nexin 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10056  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,593,858 - 85,593,918EPDNEW
RGD ID:7208623
Promoter ID:EPDNEW_H10056
Type:initiation region
Name:SNX14_2
Description:sorting nexin 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10055  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38685,594,075 - 85,594,135EPDNEW
RGD ID:6804054
Promoter ID:HG_KWN:54263
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000314673,   ENST00000346348,   ENST00000369628,   UC003PKT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36686,360,041 - 86,360,541 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14977 AgrOrtholog
COSMIC SNX14 COSMIC
Ensembl Genes ENSG00000135317 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000257769 ENTREZGENE
  ENSP00000257769.3 UniProtKB/Swiss-Prot
  ENSP00000313121 ENTREZGENE
  ENSP00000313121.3 UniProtKB/Swiss-Prot
  ENSP00000358641 ENTREZGENE
  ENSP00000358641.2 UniProtKB/Swiss-Prot
  ENSP00000358649.3 UniProtKB/TrEMBL
  ENSP00000391981.2 UniProtKB/TrEMBL
  ENSP00000420938.1 UniProtKB/TrEMBL
  ENSP00000422814.2 UniProtKB/TrEMBL
  ENSP00000424302.2 UniProtKB/TrEMBL
  ENSP00000425387.2 UniProtKB/TrEMBL
  ENSP00000425630.2 UniProtKB/TrEMBL
  ENSP00000426806.2 UniProtKB/TrEMBL
  ENSP00000427380 ENTREZGENE
  ENSP00000427380.1 UniProtKB/Swiss-Prot
  ENSP00000506724.1 UniProtKB/TrEMBL
  ENSP00000506807.1 UniProtKB/TrEMBL
  ENSP00000506829.1 UniProtKB/TrEMBL
  ENSP00000506873 ENTREZGENE
  ENSP00000506873.1 UniProtKB/TrEMBL
  ENSP00000506893.1 UniProtKB/TrEMBL
  ENSP00000506897.1 UniProtKB/TrEMBL
  ENSP00000506902.1 UniProtKB/TrEMBL
  ENSP00000506970 ENTREZGENE
  ENSP00000506970.1 UniProtKB/TrEMBL
  ENSP00000507000.1 UniProtKB/TrEMBL
  ENSP00000507001.1 UniProtKB/TrEMBL
  ENSP00000507015.1 UniProtKB/TrEMBL
  ENSP00000507024.1 UniProtKB/TrEMBL
  ENSP00000507097.1 UniProtKB/TrEMBL
  ENSP00000507116.1 UniProtKB/TrEMBL
  ENSP00000507146.1 UniProtKB/TrEMBL
  ENSP00000507188 ENTREZGENE
  ENSP00000507188.1 UniProtKB/TrEMBL
  ENSP00000507244.1 UniProtKB/TrEMBL
  ENSP00000507248.1 UniProtKB/TrEMBL
  ENSP00000507257.1 UniProtKB/TrEMBL
  ENSP00000507270.1 UniProtKB/TrEMBL
  ENSP00000507294.1 UniProtKB/TrEMBL
  ENSP00000507297.1 UniProtKB/TrEMBL
  ENSP00000507360.1 UniProtKB/TrEMBL
  ENSP00000507368.1 UniProtKB/TrEMBL
  ENSP00000507384.1 UniProtKB/TrEMBL
  ENSP00000507387.1 UniProtKB/TrEMBL
  ENSP00000507401 ENTREZGENE
  ENSP00000507401.1 UniProtKB/TrEMBL
  ENSP00000507425.1 UniProtKB/TrEMBL
  ENSP00000507444 ENTREZGENE
  ENSP00000507444.1 UniProtKB/TrEMBL
  ENSP00000507449.1 UniProtKB/TrEMBL
  ENSP00000507479.1 UniProtKB/TrEMBL
  ENSP00000507490.1 UniProtKB/TrEMBL
  ENSP00000507491 ENTREZGENE
  ENSP00000507491.1 UniProtKB/TrEMBL
  ENSP00000507507.1 UniProtKB/TrEMBL
  ENSP00000507516.1 UniProtKB/TrEMBL
  ENSP00000507539.1 UniProtKB/TrEMBL
  ENSP00000507556.1 UniProtKB/TrEMBL
  ENSP00000507586.1 UniProtKB/TrEMBL
  ENSP00000507625 ENTREZGENE
  ENSP00000507625.1 UniProtKB/TrEMBL
  ENSP00000507637.1 UniProtKB/TrEMBL
  ENSP00000507672.1 UniProtKB/TrEMBL
  ENSP00000507707.1 UniProtKB/TrEMBL
  ENSP00000507742 ENTREZGENE
  ENSP00000507742.1 UniProtKB/TrEMBL
  ENSP00000507744.1 UniProtKB/TrEMBL
  ENSP00000507777 ENTREZGENE
  ENSP00000507777.1 UniProtKB/TrEMBL
  ENSP00000507843.1 UniProtKB/TrEMBL
  ENSP00000507851.1 UniProtKB/TrEMBL
  ENSP00000507869 ENTREZGENE
  ENSP00000507869.1 UniProtKB/TrEMBL
  ENSP00000507883.1 UniProtKB/TrEMBL
  ENSP00000507932.1 UniProtKB/TrEMBL
  ENSP00000507950 ENTREZGENE
  ENSP00000507950.1 UniProtKB/TrEMBL
  ENSP00000507993.1 UniProtKB/TrEMBL
  ENSP00000507998.1 UniProtKB/TrEMBL
  ENSP00000508015.1 UniProtKB/TrEMBL
  ENSP00000508063.1 UniProtKB/TrEMBL
  ENSP00000508118.1 UniProtKB/TrEMBL
  ENSP00000508127 ENTREZGENE
  ENSP00000508127.1 UniProtKB/TrEMBL
  ENSP00000508190.1 UniProtKB/TrEMBL
  ENSP00000508193.1 UniProtKB/TrEMBL
  ENSP00000508204.1 UniProtKB/TrEMBL
  ENSP00000508216.1 UniProtKB/TrEMBL
  ENSP00000508297.1 UniProtKB/TrEMBL
  ENSP00000508327 ENTREZGENE
  ENSP00000508327.1 UniProtKB/TrEMBL
  ENSP00000508346.1 UniProtKB/TrEMBL
  ENSP00000508357.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000314673 ENTREZGENE
  ENST00000314673.8 UniProtKB/Swiss-Prot
  ENST00000346348 ENTREZGENE
  ENST00000346348.7 UniProtKB/Swiss-Prot
  ENST00000369627 ENTREZGENE
  ENST00000369627.6 UniProtKB/Swiss-Prot
  ENST00000369635.7 UniProtKB/TrEMBL
  ENST00000418862.2 UniProtKB/TrEMBL
  ENST00000505648 ENTREZGENE
  ENST00000505648.5 UniProtKB/Swiss-Prot
  ENST00000508658.6 UniProtKB/TrEMBL
  ENST00000509338.6 UniProtKB/TrEMBL
  ENST00000513865.5 UniProtKB/TrEMBL
  ENST00000513869.2 UniProtKB/TrEMBL
  ENST00000514419.6 UniProtKB/TrEMBL
  ENST00000515216.6 UniProtKB/TrEMBL
  ENST00000681981.1 UniProtKB/TrEMBL
  ENST00000682022.1 UniProtKB/TrEMBL
  ENST00000682023.1 UniProtKB/TrEMBL
  ENST00000682034.1 UniProtKB/TrEMBL
  ENST00000682057.1 UniProtKB/TrEMBL
  ENST00000682133 ENTREZGENE
  ENST00000682133.1 UniProtKB/TrEMBL
  ENST00000682171 ENTREZGENE
  ENST00000682171.1 UniProtKB/TrEMBL
  ENST00000682174.1 UniProtKB/TrEMBL
  ENST00000682374.1 UniProtKB/TrEMBL
  ENST00000682412.1 UniProtKB/TrEMBL
  ENST00000682454.1 UniProtKB/TrEMBL
  ENST00000682455.1 UniProtKB/TrEMBL
  ENST00000682464 ENTREZGENE
  ENST00000682464.1 UniProtKB/TrEMBL
  ENST00000682491 ENTREZGENE
  ENST00000682491.1 UniProtKB/TrEMBL
  ENST00000682497 ENTREZGENE
  ENST00000682497.1 UniProtKB/TrEMBL
  ENST00000682633 ENTREZGENE
  ENST00000682633.1 UniProtKB/TrEMBL
  ENST00000682660.1 UniProtKB/TrEMBL
  ENST00000682682 ENTREZGENE
  ENST00000682682.1 UniProtKB/TrEMBL
  ENST00000682688 ENTREZGENE
  ENST00000682688.1 UniProtKB/TrEMBL
  ENST00000682694.1 UniProtKB/TrEMBL
  ENST00000682738 ENTREZGENE
  ENST00000682738.1 UniProtKB/TrEMBL
  ENST00000682776.1 UniProtKB/TrEMBL
  ENST00000682854.1 UniProtKB/TrEMBL
  ENST00000682878.1 UniProtKB/TrEMBL
  ENST00000682939.1 UniProtKB/TrEMBL
  ENST00000682991.1 UniProtKB/TrEMBL
  ENST00000682995.1 UniProtKB/TrEMBL
  ENST00000683073.1 UniProtKB/TrEMBL
  ENST00000683085.1 UniProtKB/TrEMBL
  ENST00000683097.1 UniProtKB/TrEMBL
  ENST00000683126.1 UniProtKB/TrEMBL
  ENST00000683195.1 UniProtKB/TrEMBL
  ENST00000683196.1 UniProtKB/TrEMBL
  ENST00000683458.1 UniProtKB/TrEMBL
  ENST00000683479.1 UniProtKB/TrEMBL
  ENST00000683481.1 UniProtKB/TrEMBL
  ENST00000683541.1 UniProtKB/TrEMBL
  ENST00000683542.1 UniProtKB/TrEMBL
  ENST00000683577 ENTREZGENE
  ENST00000683577.1 UniProtKB/TrEMBL
  ENST00000683583.1 UniProtKB/TrEMBL
  ENST00000683643 ENTREZGENE
  ENST00000683643.1 UniProtKB/TrEMBL
  ENST00000683698.1 UniProtKB/TrEMBL
  ENST00000683726.1 UniProtKB/TrEMBL
  ENST00000683754.1 UniProtKB/TrEMBL
  ENST00000683785 ENTREZGENE
  ENST00000683785.1 UniProtKB/TrEMBL
  ENST00000683803.1 UniProtKB/TrEMBL
  ENST00000683857.1 UniProtKB/TrEMBL
  ENST00000683873.1 UniProtKB/TrEMBL
  ENST00000683878.1 UniProtKB/TrEMBL
  ENST00000683880.1 UniProtKB/TrEMBL
  ENST00000683898.1 UniProtKB/TrEMBL
  ENST00000684118 ENTREZGENE
  ENST00000684118.1 UniProtKB/TrEMBL
  ENST00000684150 ENTREZGENE
  ENST00000684150.1 UniProtKB/TrEMBL
  ENST00000684239.1 UniProtKB/TrEMBL
  ENST00000684273.1 UniProtKB/TrEMBL
  ENST00000684281.1 UniProtKB/TrEMBL
  ENST00000684299 ENTREZGENE
  ENST00000684299.1 UniProtKB/TrEMBL
  ENST00000684319 ENTREZGENE
  ENST00000684319.1 UniProtKB/TrEMBL
  ENST00000684422.1 UniProtKB/TrEMBL
  ENST00000684451.1 UniProtKB/TrEMBL
  ENST00000684570 ENTREZGENE
  ENST00000684570.1 UniProtKB/TrEMBL
  ENST00000684581.1 UniProtKB/TrEMBL
  ENST00000684647 ENTREZGENE
  ENST00000684647.1 UniProtKB/TrEMBL
  ENST00000684680 ENTREZGENE
  ENST00000684680.1 UniProtKB/TrEMBL
  ENST00000684717.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.167.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.1520.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000135317 GTEx
HGNC ID HGNC:14977 ENTREZGENE
Human Proteome Map SNX14 Human Proteome Map
InterPro Phox UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phox_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PX_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS_subdomain_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNX14_PX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SNX14_RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sorting_nexin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57231 UniProtKB/Swiss-Prot
NCBI Gene 57231 ENTREZGENE
OMIM 616105 OMIM
  616354 OMIM
Pfam Nexin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00787 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PXA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA129840867 PharmGKB
PROSITE PS50195 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PXA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PXA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00312 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48097 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF64268 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A804HHR7_HUMAN UniProtKB/TrEMBL
  A0A804HHX8_HUMAN UniProtKB/TrEMBL
  A0A804HHZ6_HUMAN UniProtKB/TrEMBL
  A0A804HI30 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HI47_HUMAN UniProtKB/TrEMBL
  A0A804HI51_HUMAN UniProtKB/TrEMBL
  A0A804HIA1 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HIC5_HUMAN UniProtKB/TrEMBL
  A0A804HIC6_HUMAN UniProtKB/TrEMBL
  A0A804HID3_HUMAN UniProtKB/TrEMBL
  A0A804HID8_HUMAN UniProtKB/TrEMBL
  A0A804HIJ3_HUMAN UniProtKB/TrEMBL
  A0A804HIK6_HUMAN UniProtKB/TrEMBL
  A0A804HIM9_HUMAN UniProtKB/TrEMBL
  A0A804HIR3 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HIV6_HUMAN UniProtKB/TrEMBL
  A0A804HIW9_HUMAN UniProtKB/TrEMBL
  A0A804HIX9_HUMAN UniProtKB/TrEMBL
  A0A804HIZ9_HUMAN UniProtKB/TrEMBL
  A0A804HJ02_HUMAN UniProtKB/TrEMBL
  A0A804HJ61_HUMAN UniProtKB/TrEMBL
  A0A804HJ76_HUMAN UniProtKB/TrEMBL
  A0A804HJ79_HUMAN UniProtKB/TrEMBL
  A0A804HJ91 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJA7_HUMAN UniProtKB/TrEMBL
  A0A804HJC6 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HJD1_HUMAN UniProtKB/TrEMBL
  A0A804HJF4_HUMAN UniProtKB/TrEMBL
  A0A804HJG1_HUMAN UniProtKB/TrEMBL
  A0A804HJH5_HUMAN UniProtKB/TrEMBL
  A0A804HJI4_HUMAN UniProtKB/TrEMBL
  A0A804HJK3_HUMAN UniProtKB/TrEMBL
  A0A804HJL8_HUMAN UniProtKB/TrEMBL
  A0A804HJS3_HUMAN UniProtKB/TrEMBL
  A0A804HJT4_HUMAN UniProtKB/TrEMBL
  A0A804HJW4_HUMAN UniProtKB/TrEMBL
  A0A804HJZ4_HUMAN UniProtKB/TrEMBL
  A0A804HK22 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HK24_HUMAN UniProtKB/TrEMBL
  A0A804HK55 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKA3_HUMAN UniProtKB/TrEMBL
  A0A804HKC6 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKD6_HUMAN UniProtKB/TrEMBL
  A0A804HKH6_HUMAN UniProtKB/TrEMBL
  A0A804HKJ3 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HKN0_HUMAN UniProtKB/TrEMBL
  A0A804HKN4_HUMAN UniProtKB/TrEMBL
  A0A804HKP6_HUMAN UniProtKB/TrEMBL
  A0A804HKT4_HUMAN UniProtKB/TrEMBL
  A0A804HKY3_HUMAN UniProtKB/TrEMBL
  A0A804HKZ1 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HL41_HUMAN UniProtKB/TrEMBL
  A0A804HL44_HUMAN UniProtKB/TrEMBL
  A0A804HL53_HUMAN UniProtKB/TrEMBL
  A0A804HLC7_HUMAN UniProtKB/TrEMBL
  A0A804HLH9_HUMAN UniProtKB/TrEMBL
  D6RBA7_HUMAN UniProtKB/TrEMBL
  D6RDA6_HUMAN UniProtKB/TrEMBL
  D6RDH9_HUMAN UniProtKB/TrEMBL
  D6REK1_HUMAN UniProtKB/TrEMBL
  D6RJG9_HUMAN UniProtKB/TrEMBL
  E2QRM8_HUMAN UniProtKB/TrEMBL
  H0Y926_HUMAN UniProtKB/TrEMBL
  Q5JRQ0_HUMAN UniProtKB/TrEMBL
  Q9BSD1 ENTREZGENE
  Q9Y5W7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DI55 UniProtKB/Swiss-Prot
  Q4VBR3 UniProtKB/Swiss-Prot
  Q5TCF9 UniProtKB/Swiss-Prot
  Q5TCG0 UniProtKB/Swiss-Prot
  Q6NUI7 UniProtKB/Swiss-Prot
  Q6PI37 UniProtKB/Swiss-Prot
  Q9BSD1 UniProtKB/Swiss-Prot