RGD:13538617 Rat Genome Database

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Variant: RGD:13538617 -  Homo sapiens

RGD ID: 13538617
RS ID: rs1383485357
ClinVar ID: CV503922
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B4GAT1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 66,114,240
GRCh38 11 66,346,769
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006876.2:c.777C>G
NG_033202.1:g.5922C>G
NC_000011.10:g.66346769G>C
NC_000011.9:g.66114240G>C
More... 		02/06/2018 synonymous variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:B4GAT1
Accession:NM_006876
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 259
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQDQYFEFFPPSPRSVDQVKAQLRTALASGGVLDASGDYR
VYRGLLKTTMDPNDVILATHASVDNLLHLSGLLERWEGPLSVSVFAATKEEAQLATVLAYALSSHCPDMRARVAMHLVCP
SRYEAAVPDPREPGEFALLRSCQEVFDKLARVAQPGINYALGTNVSYPNNLLRNLAREGANYALVIDVDMVPSEGLWRGL
REMLDQSNQWGGTALVVPAFEIRRARRMPMNKNELVQLYQVGEVRPFYYGLCTPCQAPTNYSRWVNLPEESLLRPAYVVP
WQDPWEPFYVAGGKVPTFDERFRQYGFNRISQACELHVAGFDFEVLNEGFLVHKGFKEALKFHPQKEAENQHNKILYRQF
KQELKAKYPNSPRRC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000612096 CLINVAR
dbSNP (RS) rs1383485357 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene B4GAT1 CLINVAR
OMIM 605517 CLINVAR