rs11834933 Rat Genome Database

rs11834933 Rat Genome Database

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Variant: rs11834933 - Homo sapiens

RGD ID:

15184463

RS ID:

rs11834933

ClinVar ID:

CV729882

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	12	101,584,328
GRCh38	12	101,190,550

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_145913.5:c.751T>G NM_145913.5:c.751T>G NC_000012.12:g.101190550A>C NC_000012.11:g.101584328A>C More...	02/26/2018	missense variant	benign	none provided

Gene Symbol:	SLC5A8
Accession:	NM_145913
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	251

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDTPRGIGTFVVWDYVVFAGMLVISAAIGIYYAFAGGGQQTSKDFLMGGRRMTAVPVALSLTASFMSAVTVLGTPSEVYR FGAIFSIFAFTYFFVVVISAEVFLPVFYKLGITSTYEYLELRFNKCVRLCGTVLFIVQTILYTGIVIYAPALALNQVTGF DLWGAVVATGVVCTFYCTLGGLKAVIWTDVFQVGIMVAGFASVIIQAVVMQGGISTILNDAYDGGRLNFWNFNPNPLQRH TFWTIIIGGTVTWTSIYGVNQSQVQRYISCKSRFQAKLSLYINLVGLWAILTCSVFCGLALYSRYHDCDPWTAKKVSAPD QLMPYLVLDILQDYPGLPGLFVACAYSGTLSTVSSSINALAAVTVEDLIKPYFRSLSERSLSWISQGMSVVYGALCIGMA ALASLMGALLQAALSVFGMVGGPLMGLFALGILVPFANSIGALVGLMAGFAISLWVGIGAQIYPPLPERTLPLHLDIQGC NSTYNETNLMTTTEMPFTTSVFQIYNVQRTPLMDNWYSLSYLYFSTVGTLVTLLVGILVSLSTGGRKQNLDPRYILTKED FLSNFDIFKKKKHVLSYKSHPVEDGGTDNPAFNHIELNSDQSGKSNGTRL*

Gene Symbol:	SLC5A8
Accession:	XM_017018910
Location:	EXON
Amino Acid Prediction:	F to V (nonsynonymous)
Amino Acid Position:	251

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDTPRGIGTFVVWDYVVFAGMLVISAAIGIYYAFAGGGQQTSKDFLMGGRRMTAVPVALSLTASFMSAVTVLGTPSEVYR FGAIFSIFAFTYFFVVVISAEVFLPVFYKLGITSTYEYLELRFNKCVRLCGTVLFIVQTILYTGIVIYAPALALNQVTGF DLWGAVVATGVVCTFYCTLGGLKAVIWTDVFQVGIMVAGFASVIIQAVVMQGGISTILNDAYDGGRLNFWNFNPNPLQRH TFWTIIIGGTVTWTSIYGVNQSQVQRYISCKSRFQAKLSLYINLVGLWAILTCSVFCGLALYSRYHDCDPWTAKKVSAPD QLMPYLVLDILQDYPGLPGLFVACAYSGTLSTVSSSINALAAVTVEDLIKPYFRSLSERSLSWISQGMSVVYGALCIGMA ALASLMGALLQAALSVFGMVGGPLMGLFALGILVPFANSIIFMG*

Gene Symbol:	SLC5A8
Accession:	XR_007063055
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000886453	CLINVAR
dbSNP (RS)	rs11834933	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	SLC5A8	CLINVAR
OMIM	608044	CLINVAR