Product Details

SNP ID
rs140656923
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:80976103 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTGAAAATACAATTTATTTTTCG[C/G]ATTCCTCTGGAGGATTAAAAAGTTT
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CMC2 PubMed Links

Gene Details

Gene
CMC2
Gene Name
C-X9-C motif containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020188.3 512 Missense Mutation TCC,TGC S77C NP_064573.1
XM_017023461.1 512 Missense Mutation TCC,TGC S203C XP_016878950.1
XM_017023462.1 512 UTR 3 XP_016878951.1
XM_017023463.1 512 Intron XP_016878952.1
XM_017023464.1 512 Missense Mutation TCC,TGC S160C XP_016878953.1
XM_017023465.1 512 UTR 3 XP_016878954.1
XM_017023466.1 512 UTR 3 XP_016878955.1
XM_017023467.1 512 Missense Mutation TCC,TGC S77C XP_016878956.1
XM_017023468.1 512 Missense Mutation TCC,TGC S77C XP_016878957.1
XM_017023469.1 512 Missense Mutation TCC,TGC S77C XP_016878958.1
XM_017023470.1 512 Missense Mutation TCC,TGC S77C XP_016878959.1

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