RGD:151765432 Rat Genome Database

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Variant: RGD:151765432 -  Homo sapiens

RGD ID: 151765432
RS ID: rs961046350
ClinVar ID: CV1393721
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 31,895,861
GRCh38 6 31,928,084
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282457.2:c.-63-5526C>A
NM_000063.6:c.176C>A
NM_001282459.2:c.176C>A
NM_001145903.3:c.46+286C>A
More... 		09/24/2021 genic upstream transcript variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:C2
Accession:NM_001282457
Location:5UTRS;INTRON

Gene Symbol:C2
Accession:NM_001282459
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPLMVLFCLLFLYPGLADSAPSCPQNVNISGGTFTLSHGWAPGSLLTYSCPQGLYPSQASRLCKSSGQWQTPGATRSLS
KAVCKPVRCPAPVSFENGIYTPRLGSYPVGGNVSFECEDGFILRGSPVRQCRPNGMWDGETAVCDNGAGHCPNPGISLGA
VRTGFRFGHGDKVRYRCSSNLVLTGSSERECQGNGVWSGTEPICRQPYSYDFPEDVAPALGTSFSHMLGATNPTQKTKES
LGRKIQIQRSGHLNLYLLLDCSQSVSENDFLIFKESASLMVDRVRNQESACSRGLPVLTISLCLLPLLRTPLTAHLLQEV
FSDYTHAM*

Gene Symbol:C2
Accession:NM_000063
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 59
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPLMVLFCLLFLYPGLADSAPSCPQNVNISGGTFTLSHGWAPGSLLTYSCPQGLYPSQASRLCKSSGQWQTPGATRSLS
KAVCKPVRCPAPVSFENGIYTPRLGSYPVGGNVSFECEDGFILRGSPVRQCRPNGMWDGETAVCDNGAGHCPNPGISLGA
VRTGFRFGHGDKVRYRCSSNLVLTGSSERECQGNGVWSGTEPICRQPYSYDFPEDVAPALGTSFSHMLGATNPTQKTKES
LGRKIQIQRSGHLNLYLLLDCSQSVSENDFLIFKESASLMVDRIFSFEINVSVAIITFASEPKVLMSVLNDNSRDMTEVI
SSLENANYKDHENGTGTNTYAALNSVYLMMNNQMRLLGMETMAWQEIRHAIILLTDGKSNMGGSPKTAVDHIREILNINQ
KRNDYLDIYAIGVGKLDVDWRELNELGSKKDGERHAFILQDTKALHQVFEHMLDVSKLTDTICGVGNMSANASDQERTPW
HVTIKPKSQETCRGALISDQWVLTAAHCFRDGNDHSLWRVNVGDPKSQWGKEFLIEKAVISPGFDVFAKKNQGILEFYGD
DIALLKLAQKVKMSTHARPICLPCTMEANLALRRPQGSTCRDHENELLNKQSVPAHFVALNGSKLNINLKMGVEWTSCAE
VVSQEKTMFPNLTDVREVVTDQFLCSGTQEDESPCKGESGGAVFLERRFRFFQVGLVSWGLYNPCLGSADKNSRKRAPRS
KVPPPRDFHINLFRMQPWLRQHLGDVLNFLPL*

Gene Symbol:C2
Accession:NM_001282458
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLLGAFSPTPAPRACTHPKHHGCARAADSGRPQEPPGLCLRRSANVRLPVGFAQAVRCPAPVSFENGIYTPRLGSYPV
GGNVSFECEDGFILRGSPVRQCRPNGMWDGETAVCDNGAGHCPNPGISLGAVRTGFRFGHGDKVRYRCSSNLVLTGSSER
ECQGNGVWSGTEPICRQPYSYDFPEDVAPALGTSFSHMLGATNPTQKTKESLGRKIQIQRSGHLNLYLLLDCSQSVSEND
FLIFKESASLMVDRIFSFEINVSVAIITFASEPKVLMSVLNDNSRDMTEVISSLENANYKDHENGTGTNTYAALNSVYLM
MNNQMRLLGMETMAWQEIRHAIILLTDGKSNMGGSPKTAVDHIREILNINQKRNDYLDIYAIGVGKLDVDWRELNELGSK
KDGERHAFILQDTKALHQVFEHMLDVSKLTDTICGVGNMSANASDQERTPWHVTIKPKSQETCRGALISDQWVLTAAHCF
RDGNDHSLWRVNVGDPKSQWGKEFLIEKAVISPGFDVFAKKNQGILEFYGDDIALLKLAQKVKMSTHARPICLPCTMEAN
LALRRPQGSTCRDHENELLNKQSVPAHFVALNGSKLNINLKMGVEWTSCAEVVSQEKTMFPNLTDVREVVTDQFLCSGTQ
EDESPCKGESGGAVFLERRFRFFQVGLVSWGLYNPCLGSADKNSRKRAPRSKVPPPRDFHINLFRMQPWLRQHLGDVLNF
LPL*

Gene Symbol:C2
Accession:NM_001145903
Location:INTRON

Gene Symbol:C2
Accession:NM_001178063
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002008331 CLINVAR
dbSNP (RS) rs961046350 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene C2 CLINVAR
OMIM 613927 CLINVAR