Product Details

SNP ID
rs139959399
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:85328663 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTTCAACATTTGATAGAAGGCTG[C/T]GGAATTGTGCCAGCTAGAAGGATAA
Phenotype
MIM: 114800
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CA1 PubMed Links

Gene Details

Gene
CA1
Gene Name
carbonic anhydrase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001128829.3 762 Missense Mutation CAC,CGC H228R NP_001122301.1
NM_001128830.3 762 Missense Mutation CAC,CGC H228R NP_001122302.1
NM_001128831.3 762 Missense Mutation CAC,CGC H228R NP_001122303.1
NM_001164830.1 762 Missense Mutation CAC,CGC H228R NP_001158302.1
NM_001291967.1 762 Missense Mutation CAC,CGC H162R NP_001278896.1
NM_001291968.1 762 Missense Mutation CAC,CGC H115R NP_001278897.1
NM_001738.4 762 Missense Mutation CAC,CGC H228R NP_001729.1

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