Product Details

SNP ID

rs148320997

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:66379340 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGATCTGTTCCTCCTGGGAAGAT[A/G]CAGAGGCTCATGATGCTCCTCGCCA

Phenotype

MIM: 601120

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CDH5 PubMed Links

Gene Details

Gene

CDH5

Gene Name

cadherin 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001795.4	151	Missense Mutation	ATA,ATG	I1M	NP_001786.2
XM_011522801.1	151	Missense Mutation	ATA,ATG	I1M	XP_011521103.1

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