Product Details

SNP ID
rs147697502
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:143440108 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGGGCTCCTGGGCTCGGCGAGGA[C/G]TGCAGGGAGATGAAGGAAGGCAGCT
Phenotype
MIM: 610303
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
MAFA PubMed Links

Gene Details

Gene
MAFA
Gene Name
MAF bZIP transcription factor A
There are no transcripts associated with this gene.

Gene
ZC3H3
Gene Name
zinc finger CCCH-type containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015117.2 2777 Missense Mutation CAC,CAG H916Q NP_055932.2
XM_006716536.3 2777 Missense Mutation CAC,CAG H978Q XP_006716599.2
XM_011516943.2 2777 Intron XP_011515245.1
XM_011516944.2 2777 Intron XP_011515246.1
XM_017013248.1 2777 Missense Mutation CAC,CAG H1044Q XP_016868737.1
XM_017013249.1 2777 Missense Mutation CAC,CAG H1044Q XP_016868738.1

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