Product Details

SNP ID

rs187860183

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:109250266 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCTGGCTCTGTCCATCCTCAGCG[G/T]CGAACCTCTGGCTCTACACCAGCCG

Phenotype

MIM: 604265

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CELSR2 PubMed Links

Gene Details

Gene

CELSR2

Gene Name

cadherin EGF LAG seven-pass G-type receptor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001408.2	248	Missense Mutation	GCG,TCG	A63S	NP_001399.1
XM_005270580.4	248	Missense Mutation	GCG,TCG	A63S	XP_005270637.1

View Full Product Details