Product Details

SNP ID

hCV27541080

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:85473735 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGATGGCACTTACAGATTGATTC[A/C]GTTTCACTTTCACTGGGGTTCACTT

Phenotype

MIM: 611492

Polymorphism

A/C, 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	455	Missense Mutation	CAG,CCG	Q92P	NP_000058.1
NM_001293675.1	455	Intron			NP_001280604.1

Gene

CA3-AS1

Gene Name

CA3 antisense RNA 1

There are no transcripts associated with this gene.

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