Product Details

SNP ID
rs200812021
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:128276323 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTGGCCCGGTGCACCTGAGAGGT[A/C]GCTCTCCGACTCCCGCGCTGGACCC
Phenotype
MIM: 602580 MIM: 616528
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
GOLGA2 PubMed Links

Gene Details

Gene
GOLGA2
Gene Name
golgin A2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004486.4 178 Intron NP_004477.3
XM_005251930.1 178 Intron XP_005251987.1
XM_005251931.1 178 Intron XP_005251988.1
XM_005251932.1 178 Intron XP_005251989.1
Gene
SWI5
Gene Name
SWI5 homologous recombination repair protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040011.1 178 Missense Mutation AGC,CGC S60R NP_001035100.1
NM_001318089.1 178 Missense Mutation AGC,CGC S60R NP_001305018.1
NM_001318092.1 178 Intron NP_001305021.1
XM_011518652.2 178 Missense Mutation AGC,CGC S60R XP_011516954.1

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