Product Details

SNP ID

rs116233263

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:8945956 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGCCCAGCATGTGTCTGACTGG[A/G]CCTACTCAGGTGAGCCCCTAGCTTC

Phenotype

MIM: 114780

Polymorphism

A/G, Transition 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	123	Missense Mutation	ACC,GCC	T24A	NP_001206.2
NM_001270500.1	123	Missense Mutation	ACC,GCC	T24A	NP_001257429.1
NM_001270501.1	123	Missense Mutation	ACC,GCC	T24A	NP_001257430.1
NM_001270502.1	123	Silent Mutation	GGA,GGG	G5G	NP_001257431.1
XM_011542083.2	123	Missense Mutation	ACC,GCC	T28A	XP_011540385.1
XM_011542084.2	123	Missense Mutation	ACC,GCC	T28A	XP_011540386.1

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