Product Details

SNP ID

rs139833538

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73831806 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCGCCAAGTATTCTGCTGCCCGCT[C/T]TGCTGCTGCCAGCAACTACGTGTAA

Phenotype

MIM: 602909 MIM: 612546

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CLDN4 PubMed Links

Gene Details

Gene

CLDN4

Gene Name

claudin 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001305.4	944	Missense Mutation	TCT,TTT	S202F	NP_001296.1

Gene

WBSCR27

Gene Name

Williams Beuren syndrome chromosome region 27

There are no transcripts associated with this gene.

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