Product Details

SNP ID

rs1048133

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:155280036 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGAGGTTACAGCCCACATCAAAA[C/G]ACTCCTTGTACTTGGGACTCAGGTG

Phenotype

MIM: 300138

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CLIC2 PubMed Links

Gene Details

Gene

CLIC2

Gene Name

chloride intracellular channel 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001289.5	580	Missense Mutation	TCT,TGT	S109C	NP_001280.3

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