Product Details

SNP ID

rs104894559

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:60150074 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGCTCCTGGCCCTCTCCGCGGCG[C/T]GGCCATCGGCCAGTGCAGGTGAGCT

Phenotype

MIM: 114760

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CA4 PubMed Links

Gene Details

Gene

CA4

Gene Name

carbonic anhydrase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_005257639.2	134	Missense Mutation	CGG,TGG	R14W	XP_005257696.1
XM_011525183.2	134	Intron			XP_011523485.1
XM_017025012.1	134	Intron			XP_016880501.1

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