Product Details

SNP ID

rs112536089

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:85465400 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTCTGTTTCCTATGATCAAGCA[A/T]CTTCCCTGAGGATCCTCAACAATGG

Phenotype

MIM: 611492

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CA2 PubMed Links

Gene Details

Gene

CA2

Gene Name

carbonic anhydrase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000067.2	343	Missense Mutation	ACT,TCT	T55S	NP_000058.1
NM_001293675.1	343	UTR 5			NP_001280604.1

Gene

CA3-AS1

Gene Name

CA3 antisense RNA 1

There are no transcripts associated with this gene.

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