Product Details

SNP ID
rs201946973
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:111362802 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGTGGGGTGCCGAGGCCCGGCGG[C/T]GAGGCGGTGGTGGAGGGGGCTCGGG
Phenotype
MIM: 614239
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FAM109A PubMed Links

Gene Details

Gene
FAM109A
Gene Name
family with sequence similarity 109 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001177996.1 1017 Missense Mutation CAC,CGC H222R NP_001171467.1
NM_001177997.1 1017 Missense Mutation CAC,CGC H209R NP_001171468.1
NM_144671.4 1017 Missense Mutation CAC,CGC H209R NP_653272.2
XM_006719257.3 1017 Missense Mutation CAC,CGC H209R XP_006719320.1
XM_011537976.2 1017 Missense Mutation CAC,CGC H209R XP_011536278.1
XM_017018883.1 1017 Missense Mutation CAC,CGC H209R XP_016874372.1

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