Product Details

SNP ID

rs201834369

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:52354631 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTCCACAATTTCTCTGATCTCAC[A/G]CTCATTCTCCAGCCGCTCCAGTTTC

Phenotype

MIM: 603755

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CC2D1B PubMed Links

Gene Details

Gene

CC2D1B

Gene Name

coiled-coil and C2 domain containing 1B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032449.2	2644	Missense Mutation	CGT,TGT	R809C	NP_115825.1
XM_005270590.2	2644	Missense Mutation	CGT,TGT	R809C	XP_005270647.1
XM_005270591.2	2644	Missense Mutation	CGT,TGT	R803C	XP_005270648.1
XM_005270593.2	2644	Missense Mutation	CGT,TGT	R500C	XP_005270650.1
XM_006710423.2	2644	Missense Mutation	CGT,TGT	R767C	XP_006710486.1
XM_017000559.1	2644	Missense Mutation	CGT,TGT	R494C	XP_016856048.1

Gene

ZFYVE9

Gene Name

zinc finger FYVE-type containing 9

There are no transcripts associated with this gene.

View Full Product Details