Product Details

SNP ID

rs80158493

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81559570 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCCACACAGCACTCCCACCACAG[A/G]CACACTTTGAAGTGCTTAATGCCCT

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		Intron			NP_060391.2
XM_011524979.1		Intron			XP_011523281.1
XM_011524980.1		Intron			XP_011523282.1
XM_011524981.1		Intron			XP_011523283.1
XM_011524982.2		Intron			XP_011523284.1
XM_017024830.1		Intron			XP_016880319.1

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