RGD:155999456 Rat Genome Database

RGD:155999456 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: RGD:155999456 - Homo sapiens

RGD ID:

155999456

ClinVar ID:

CV2373419

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	12	101,581,282
GRCh38	12	101,187,504

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_145913.5:c.845T>C NC_000012.12:g.101187504A>G NC_000012.11:g.101581282A>G NM_145913.3:c.845T>C NP_666018.3:p.Ile282Thr More...	04/07/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	SLC5A8
Accession:	NM_145913
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	282

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

Gene Symbol:	SLC5A8
Accession:	XM_017018910
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	282

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

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004220119	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	SLC5A8	CLINVAR
OMIM	608044	CLINVAR