Product Details

SNP ID

rs200259537

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:46139740 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAATTTCCTCATCTCCAGAATTTT[A/G]TCAAAGAAGGTGTTTTGGTAGAGCA

Phenotype

MIM: 607293 MIM: 617000

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CLIC5 PubMed Links

Gene Details

Gene

CLIC5

Gene Name

chloride intracellular channel 5

There are no transcripts associated with this gene.

Gene

ENPP4

Gene Name

ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014936.4	416	Missense Mutation	ATC,GTC	I53V	NP_055751.1

View Full Product Details