Product Details

SNP ID

rs116846882

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:87924313 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAACCGTGAATGGCACTGAGCAT[A/G]CAGGCAGCGTGGCTCCTTCTCACCT

Phenotype

MIM: 114761

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CA5A PubMed Links

Additional Information

For this assay, SNP(s) [rs140085252] 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

CA5A

Gene Name

carbonic anhydrase 5A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001739.1	489	Intron			NP_001730.1
XM_005256134.4	489	Missense Mutation	CAT,TAT	H122Y	XP_005256191.1
XM_011523309.2	489	Intron			XP_011521611.1
XM_011523310.2	489	Intron			XP_011521612.1
XM_017023646.1	489	Intron			XP_016879135.1

View Full Product Details