RGD:12842535 Rat Genome Database

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Variant: RGD:12842535 -  Homo sapiens

RGD ID: 12842535
RS ID: rs768046807
ClinVar ID: CV372264
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HEPACAM  LOC107984406  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 124,791,088
GRCh38 11 124,921,192
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029603.1:g.20221C>T
NC_000011.10:g.124921192G>A
NC_000011.9:g.124791088G>A
NP_689935.2:p.Gly399=
More... 		09/28/2016 synonymous variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRERGALSRASRALRLAPFVYLLLIQTDPLEGVNITSPVRLIHGTVGKSALLSVQYSSTSSDRPVVKWQLKRDKPVTVV
QSIGTEVIGTLRPDYRDRIRLFENGSLLLSDLQLADEGTYEVEISITDDTFTGEKTINLTVDVPISRPQVLVASTTVLEL
SEAFTLNCSHENGTKPSYTWLKDGKPLLNDSRMLLSPDQKVLTITRVLMEDDDLYSCMVENPISQGRSLPVKITVYRRSS
LYIILSTGGIFLLVTLVTVCACWKPSKRKQKKLEKQNSLEYMDQNDDRLKPEGELPATQSPIPSTIRSVGCWEKAELGDK
ENSSAGTLPPPTARRLQRRERFGQADTLPRSGEQERKNPMALYILKDKDSPETEENPAPEPRSATEPGPPGYSVSPAVPG
RSPGLPIRSARRYPRSPARSPATGRTHSSPPRAPSSPGRSRSASRTLRTAGVHIIREQDEAGPVEISA*

Gene Symbol:HEPACAM
Accession:XM_005271449
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 398
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRERGALSRASRALRLAPFVYLLLIQTDPLEGVNITSPVRLIHGTVGKSALLSVQYSSTSSDRPVVKWQLKRDKPVTVV
QSIGTEVIGTLRPDYRDRIRLFENGSLLLSDLQLADEGTYEVEISITDDTFTGEKTINLTVDVPISRPQVLVASTTVLEL
SEAFTLNCSHENGTKPSYTWLKDGKPLLNDSRMLLSPDQKVLTITRVLMEDDDLYSCMVENPISQGRSLPVKITVYRRSS
LYIILSTGGIFLLVTLVTVCACWKPSKRKQKKLEKQNSLEYMDQNDDRLKPEDTLPRSGEQERKNPMALYILKDKDSPET
EENPAPEPRSATEPGPPGYSVSPAVPGRSPGLPIRSARRYPRSPARSPATGRTHSSPPRAPSSPGRSRSASRTLRTAGVH
IIREQDEAGPVEISA*

Gene Symbol:HEPACAM
Accession:NM_152722
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRERGALSRASRALRLAPFVYLLLIQTDPLEGVNITSPVRLIHGTVGKSALLSVQYSSTSSDRPVVKWQLKRDKPVTVV
QSIGTEVIGTLRPDYRDRIRLFENGSLLLSDLQLADEGTYEVEISITDDTFTGEKTINLTVDVPISRPQVLVASTTVLEL
SEAFTLNCSHENGTKPSYTWLKDGKPLLNDSRMLLSPDQKVLTITRVLMEDDDLYSCMVENPISQGRSLPVKITVYRRSS
LYIILSTGGIFLLVTLVTVCACWKPSKRKQKKLEKQNSLEYMDQNDDRLKPEADTLPRSGEQERKNPMALYILKDKDSPE
TEENPAPEPRSATEPGPPGYSVSPAVPGRSPGLPIRSARRYPRSPARSPATGRTHSSPPRAPSSPGRSRSASRTLRTAGV
HIIREQDEAGPVEISA*

Gene Symbol:HEPACAM
Accession:NM_001411043
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 451
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRERGALSRASRALRLAPFVYLLLIQTDPLEGVNITSPVRLIHGTVGKSALLSVQYSSTSSDRPVVKWQLKRDKPVTVV
QSIGTEVIGTLRPDYRDRIRLFENGSLLLSDLQLADEGTYEVEISITDDTFTGEKTINLTVDVPISRPQVLVASTTVLEL
SEAFTLNCSHENGTKPSYTWLKDGKPLLNDSRMLLSPDQKVLTITRVLMEDDDLYSCMVENPISQGRSLPVKITVYRRSS
LYIILSTGGIFLLVTLVTVCACWKPSKRKQKKLEKQNSLEYMDQNDDRLKPEGELPATQSPIPSTIRSVGCWEKAELGDK
ENSSAGTLPPPTARRLQRRERFGQADTLPRSGEQERKNPMALYILKDKDSPETEENPAPEPRSATEPGPPGYSVSPAVPG
RSPGLPIRSARRYPRSPARSPATGRTHSSPPRAPSSPGRSRSASRTLRTAGVHIIREQDEAGPVEISA*

Gene Symbol:LOC107984406
Accession:XR_001748429
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000434595 CLINVAR
dbSNP (RS) rs768046807 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HEPACAM CLINVAR
OMIM 611642 CLINVAR