Product Details

SNP ID

rs200774497

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:62164068 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGGCCTTGCGGCTGCGCCCCACC[A/G]CAGCGCTGCATTGCCAACGCGCAGT

Phenotype

MIM: 610344

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C2CD4B PubMed Links

Gene Details

Gene

C2CD4B

Gene Name

C2 calcium dependent domain containing 4B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007595.2	1387	Missense Mutation	GCG,GTG	A306V	NP_001007596.2
XM_017022170.1	1387	Missense Mutation	GCG,GTG	A306V	XP_016877659.1

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