Product Details

SNP ID
rs202133528
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:81559415 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACCTGGGAGCTGCCCGCCAACTGT[A/G]CCTGCAGGGTGGAAGAGAAATGAGC
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 1349 Silent Mutation AGC,AGT S557S NP_060391.2
XM_011524979.1 1349 Intron XP_011523281.1
XM_011524980.1 1349 Missense Mutation GCA,GTA A582V XP_011523282.1
XM_011524981.1 1349 Silent Mutation AGC,AGT S562S XP_011523283.1
XM_011524982.2 1349 Intron XP_011523284.1
XM_017024830.1 1349 Missense Mutation GCA,GTA A356V XP_016880319.1

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