Product Details

SNP ID
rs34265054
Assay Type
Functionally Tested
NCBI dbSNP Submissions
27
Location
Chr.1:8949293 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACTGGACGAAGCGCACTGGCCAC[A/T]GCACTACCCCGCCTGTGGGGGCCAG
Phenotype
MIM: 114780
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
CA6 PubMed Links

Gene Details

Gene
CA6
Gene Name
carbonic anhydrase 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001215.3 211 Missense Mutation CAG,CTG Q37L NP_001206.2
NM_001270500.1 211 Missense Mutation CAG,CTG Q37L NP_001257429.1
NM_001270501.1 211 Intron NP_001257430.1
NM_001270502.1 211 Intron NP_001257431.1
XM_011542083.2 211 Missense Mutation CAG,CTG Q41L XP_011540385.1
XM_011542084.2 211 Missense Mutation CAG,CTG Q41L XP_011540386.1

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