Product Details

SNP ID
rs200309705
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:86560311 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGAAAGGCGAATACATTCACTTCA[C/T]CCCTGACCTTCTACTTGGAAAAAAA
Phenotype
MIM: 616857
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CLCA4 PubMed Links

Gene Details

Gene
CLCA4
Gene Name
chloride channel accessory 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012128.3 445 Missense Mutation ACC,ATC T134I NP_036260.2
XM_011541015.2 445 Missense Mutation ACC,ATC T83I XP_011539317.1

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