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SNP ID

rs147074853

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:73831555 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGAAAGCGCCAAGGCCAAGACCAT[A/G]ATCGTGGCGGGCGTGGTGTTCCTGT

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001305.4	693	Missense Mutation	ATA,ATG	I118M	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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