Product Details

SNP ID

rs146139739

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:8949318 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCACTACCCCGCCTGTGGGGGCCA[C/G]AGACAGTCGCCTATCAACCTACAGA

Phenotype

MIM: 114780

Polymorphism

C/G, 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	236	Missense Mutation	CAC,CAG	H45Q	NP_001206.2
NM_001270500.1	236	Missense Mutation	CAC,CAG	H45Q	NP_001257429.1
NM_001270501.1	236	Intron			NP_001257430.1
NM_001270502.1	236	Intron			NP_001257431.1
XM_011542083.2	236	Missense Mutation	CAC,CAG	H49Q	XP_011540385.1
XM_011542084.2	236	Missense Mutation	CAC,CAG	H49Q	XP_011540386.1

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