Product Details

SNP ID

rs199915302

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:151518625 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTGGTGCAGAGATGGGCACTCTA[C/T]GTCGAGGTGGACGACGCCCAGCTAA

Phenotype

MIM: 609473

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CGN PubMed Links

Gene Details

Gene

CGN

Gene Name

cingulin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020770.2	250	Missense Mutation	CGT,TGT	R36C	NP_065821.1
XM_005245365.4	250	Missense Mutation	CGT,TGT	R36C	XP_005245422.1

View Full Product Details