Product Details

SNP ID

rs13246460

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73834835 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGGCAGAGATGCCGGATACCACC[A/T]CCAGCTCGGAGGTAGCCAGCTCCCA

Phenotype

MIM: 602909 MIM: 612546

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CLDN4 PubMed Links

Gene Details

Gene

CLDN4

Gene Name

claudin 4

There are no transcripts associated with this gene.

Gene

WBSCR27

Gene Name

Williams Beuren syndrome chromosome region 27

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152559.2	766	Missense Mutation	AGG,TGG	R216W	NP_689772.2
XM_017011777.1	766	Missense Mutation	AGG,TGG	R242W	XP_016867266.1
XM_017011778.1	766	Missense Mutation	AGG,TGG	R242W	XP_016867267.1

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