Product Details

SNP ID

rs74113801

Assay Type

Functionally tested

NCBI dbSNP Submissions

22

Location

Chr.1:109250506 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACCCGTGCTTAAAGGCTCCACGG[C/T]TCAGATGCCAGTCCTGCAAGCTGGC

Phenotype

MIM: 604265

Polymorphism

C/T, 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	488	Missense Mutation	CTC,TTC	L143F	NP_001399.1
XM_005270580.4	488	Missense Mutation	CTC,TTC	L143F	XP_005270637.1

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