Product Details

SNP ID

rs199921829

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:109250301 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTCTACACCAGCCGCTGCAGGGA[G/T]GCGGGCACTGAGCTGACTGGCCACC

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	283	Missense Mutation	GAG,GAT	E74D	NP_001399.1
XM_005270580.4	283	Missense Mutation	GAG,GAT	E74D	XP_005270637.1

View Full Product Details