Product Details

SNP ID

rs147032350

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73834883 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCGGTCCACAGGCGGTCCACAG[G/T]CCAGGCCACCAGGCCTTCCCACATC

Phenotype

MIM: 602909 MIM: 612546

Polymorphism

G/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	718	Missense Mutation	ACT,CCT	T200P	NP_689772.2
XM_017011777.1	718	Missense Mutation	ACT,CCT	T226P	XP_016867266.1
XM_017011778.1	718	Missense Mutation	ACT,CCT	T226P	XP_016867267.1

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