Product Details

SNP ID
rs201416423
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:66852797 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACTGGACCTACCCGGGCTCTCTGA[C/T]GACTCCCCCACTCAGTGAGAGTGTC
Phenotype
MIM: 114770
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CA7 PubMed Links
Additional Information
For this assay, SNP(s) [rs7187695] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene
CA7
Gene Name
carbonic anhydrase 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001014435.1 705 Missense Mutation ACG,ATG T145M NP_001014435.1
NM_005182.2 705 Missense Mutation ACG,ATG T201M NP_005173.1
XM_005256136.3 705 Missense Mutation ACG,ATG T145M XP_005256193.1
XM_011523311.1 705 Missense Mutation ACG,ATG T201M XP_011521613.1
XM_011523312.1 705 Missense Mutation ACG,ATG T145M XP_011521614.1

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