Product Details

SNP ID
rs77140636
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:7096549 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCATACCACATAGACGCTGCCAC[A/T]GTCCCCCTGGCAGACACTGTGCCTT
Phenotype
MIM: 613785 MIM: 608974
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
C1R PubMed Links

Gene Details

Gene
C1R
Gene Name
complement C1r subcomponent
There are no transcripts associated with this gene.

Gene
C1RL
Gene Name
complement C1r subcomponent like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297640.1 1451 Missense Mutation AGT,TGT S394C NP_001284569.1
NM_001297642.1 1451 UTR 3 NP_001284571.1
NM_001297643.1 1451 Intron NP_001284572.1
NM_016546.3 1451 Missense Mutation AGT,TGT S436C NP_057630.2
XM_017019397.1 1451 Missense Mutation AGT,TGT S453C XP_016874886.1
XM_017019398.1 1451 Missense Mutation AGT,TGT S411C XP_016874887.1
XM_017019399.1 1451 Intron XP_016874888.1
XM_017019400.1 1451 Intron XP_016874889.1
XM_017019401.1 1451 Intron XP_016874890.1
XM_017019402.1 1451 Intron XP_016874891.1
XM_017019403.1 1451 Intron XP_016874892.1
XM_017019404.1 1451 Intron XP_016874893.1

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