Product Details

SNP ID
rs201095089
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81559406 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTCATGGAGACCTGGGAGCTGCCC[A/G]CCAACTGTGCCTGCAGGGTGGAAGA
Phenotype
MIM: 611301 MIM: 606590
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
FAAP100 PubMed Links

Gene Details

Gene
FAAP100
Gene Name
Fanconi anemia core complex associated protein 100
There are no transcripts associated with this gene.

Gene
NPLOC4
Gene Name
NPL4 homolog, ubiquitin recognition factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017921.3 1358 Silent Mutation GGC,GGT G560G NP_060391.2
XM_011524979.1 1358 Intron XP_011523281.1
XM_011524980.1 1358 Missense Mutation GCG,GTG A585V XP_011523282.1
XM_011524981.1 1358 Silent Mutation GGC,GGT G565G XP_011523283.1
XM_011524982.2 1358 Intron XP_011523284.1
XM_017024830.1 1358 Missense Mutation GCG,GTG A359V XP_016880319.1

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