Product Details

SNP ID

rs201044858

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:62164905 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGCAGAATTCGGGGATGCGATTC[C/G]GCGTGAGCACTTTGGCGAAGGCGGG

Phenotype

MIM: 610344

Polymorphism

C/G, Transversion 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	550	Missense Mutation	CCG,CGG	P27R	NP_001007596.2
XM_017022170.1	550	Missense Mutation	CCG,CGG	P27R	XP_016877659.1

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