Product Details

SNP ID

rs202060540

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73840069 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTAGCTCAGGTATCGCATTGCAG[A/G]GCACCTGGCCGTCACTGAGGGCACC

Phenotype

MIM: 602909 MIM: 612546

Polymorphism

A/G, Transition 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	482	Missense Mutation	CCC,CTC	P147L	NP_689772.2
XM_017011777.1	482	Missense Mutation	CCC,CTC	P147L	XP_016867266.1
XM_017011778.1	482	Missense Mutation	CCC,CTC	P147L	XP_016867267.1

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