Product Details

SNP ID

rs140214912

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:85259435 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTTGTTTAGTTCTGCGTGGTGGT[A/C]CTCTCACTGGAAGCTACAGGTTACG

Phenotype

MIM: 611436

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CA13 PubMed Links

Gene Details

Gene

CA13

Gene Name

carbonic anhydrase 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198584.2	592	Missense Mutation	ACT,CCT	T84P	NP_940986.1

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