Product Details

SNP ID

rs146709942

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:109250665 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCACAGTGCCGGAGAACCAGCCA[C/G]CAGGCACCCCTGTTGCATCCCTGAG

Phenotype

MIM: 604265

Polymorphism

C/G, 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	647	Missense Mutation	CCA,GCA	P196A	NP_001399.1
XM_005270580.4	647	Missense Mutation	CCA,GCA	P196A	XP_005270637.1

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