Product Details

SNP ID

rs200521679

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:85250757 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATTTAAGGTCCTATTCACTGGAAG[A/G]AATTTTTCCCTATTGCTGATGGTGA

Phenotype

MIM: 611436

Polymorphism

A/G, Transition 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	397	Missense Mutation	AAA,GAA	K19E	NP_940986.1

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