Product Details

SNP ID

rs112983744

Assay Type

Functionally tested

NCBI dbSNP Submissions

22

Location

Chr.1:109250351 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTACCCCACCACGATGGCCTGA[A/G]GGTTTGGTGTCCAGAATCCGAGGCC

Phenotype

MIM: 604265

Polymorphism

A/G, Transition 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	333	Missense Mutation	AAG,AGG	K91R	NP_001399.1
XM_005270580.4	333	Missense Mutation	AAG,AGG	K91R	XP_005270637.1

View Full Product Details