Product Details

SNP ID
rs61753641
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:34670509 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCCGGGGGAGGACGAAGAGAGAC[G/T]AGAGCGGAGCCCGGAGGGGCCAAGG
Phenotype
MIM: 615321
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CLIC6 PubMed Links

Gene Details

Gene
CLIC6
Gene Name
chloride intracellular channel 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317009.1 1557 Missense Mutation CGA,CTA R374L NP_001303938.1
NM_053277.2 1557 Missense Mutation CGA,CTA R374L NP_444507.1
XM_017028406.1 1557 Missense Mutation CGA,CTA R374L XP_016883895.1

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