RGD:11642464 Rat Genome Database

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Variant: RGD:11642464 -  Homo sapiens

RGD ID: 11642464
RS ID: rs886042071
ClinVar ID: CV265227
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALT  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 34,648,888
GRCh38 9 34,648,891
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.34648891G>C
NC_000009.11:g.34648888G>C
NP_000146.2:p.Asp273His
NG_009029.2:g.7303G>C
More... 		09/29/2015 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GALT
Accession:NM_000155
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRSGTDPQQRQQASEADAAAATFRANDHQHIRYNPLQDEWVLVSAHRMKRPWQGQVEPQLLKTVPRHDPLNPLCPGAIR
ANGEVNPQYDSTFLFDNDFPALQPDAPSPGPSDHPLFQAKSARGVCKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEE
LGAQYPWVQIFENKGAMMGCSNPHPHCQVWASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWL
VLVPFWATWPYQTLLLPRRHVRRLPELTPAERHDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHA
HYYPPLLRSATVRKFMVGYEMLAQAQRDLTPEQAAERLRALPEVHYHLGQKDRETATIA*

Gene Symbol:GALT
Accession:NM_001258332
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 164
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTLSTLCVLGPSEPTESKVMCFHPWSDVTLPLMSVPEIRAVVDAWASVTEELGAQYPWVQIFENKGAMMGCSNPHPHCQV
WASSFLPDIAQREERSQQAYKSQHGEPLLMEYSRQELLRKERLVLTSEHWLVLVPFWATWPYQTLLLPRRHVRRLPELTP
AERHDLASIMKKLLTKYDNLFETSFPYSMGWHGAPTGSEAGANWNHWQLHAHYYPPLLRSATVRKFMVGYEMLAQAQRDL
TPEQAAERLRALPEVHYHLGQKDRETATIA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000374333 CLINVAR
dbSNP (RS) rs886042071 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene GALT CLINVAR
OMIM 606999 CLINVAR