Product Details

SNP ID

rs2274328

Assay Type

Validated

NCBI dbSNP Submissions

85

Location

Chr.1:8949385 on Build GRCh38

Set Membership

HapMap JSNP Validated

Context Sequence [VIC/FAM]

CAACCCCTCCTTGAAGGGGCTCAAT[A/C]TGACAGGCTATGAGACCCAGGCAGG

Phenotype

MIM: 114780

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CA6 PubMed Links

Additional Information

For this assay, SNP(s) [rs58800854] 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

CA6

Gene Name

carbonic anhydrase 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001215.3	303	Missense Mutation	ATG,CTG	M68L	NP_001206.2
NM_001270500.1	303	Missense Mutation	ATG,CTG	M68L	NP_001257429.1
NM_001270501.1	303	Intron			NP_001257430.1
NM_001270502.1	303	Intron			NP_001257431.1
XM_011542083.2	303	Missense Mutation	ATG,CTG	M72L	XP_011540385.1
XM_011542084.2	303	Missense Mutation	ATG,CTG	M72L	XP_011540386.1

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