Product Details

SNP ID
rs200012173
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:80976147 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAGTTTCTTTCGCATTGCAATGCC[A/G]TGCTCCCTGCTCTTGGTCCTGTTTT
Phenotype
Polymorphism
A/G, Transition 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_020188.3 468 Silent Mutation CAC,CAT H62H NP_064573.1
XM_017023461.1 468 Silent Mutation CAC,CAT H188H XP_016878950.1
XM_017023462.1 468 UTR 3 XP_016878951.1
XM_017023463.1 468 Intron XP_016878952.1
XM_017023464.1 468 Silent Mutation CAC,CAT H145H XP_016878953.1
XM_017023465.1 468 UTR 3 XP_016878954.1
XM_017023466.1 468 Missense Mutation CGG,TGG R107W XP_016878955.1
XM_017023467.1 468 Silent Mutation CAC,CAT H62H XP_016878956.1
XM_017023468.1 468 Silent Mutation CAC,CAT H62H XP_016878957.1
XM_017023469.1 468 Silent Mutation CAC,CAT H62H XP_016878958.1
XM_017023470.1 468 Silent Mutation CAC,CAT H62H XP_016878959.1

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