Product Details

SNP ID

rs145623986

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:73242997 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGTGTTGTAGCTGGAGTTTCAGA[C/T]GTCTGAGTAAGTCTTTCTATATTTC

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C17orf80 PubMed Links

Gene Details

Gene

C17orf80

Gene Name

chromosome 17 open reading frame 80

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100621.2	1858	Missense Mutation	CGT,TGT	R539C	NP_001094091.1
NM_001100622.2	1858	Missense Mutation	CGT,TGT	R575C	NP_001094092.1
NM_001288770.1	1858	Missense Mutation	CGT,TGT	R539C	NP_001275699.1
NM_001288771.1	1858	Missense Mutation	CGT,TGT	R539C	NP_001275700.1
NM_017941.5	1858	Missense Mutation	CGT,TGT	R575C	NP_060411.2
XM_005257487.3	1858	Missense Mutation	CGT,TGT	R575C	XP_005257544.1
XM_006721966.3	1858	Missense Mutation	CGT,TGT	R539C	XP_006722029.1
XM_011524961.1	1858	Missense Mutation	CGT,TGT	R575C	XP_011523263.1
XM_011524962.2	1858	Missense Mutation	CGT,TGT	R575C	XP_011523264.1
XM_017024806.1	1858	Missense Mutation	CGT,TGT	R575C	XP_016880295.1

Gene

CPSF4L

Gene Name

cleavage and polyadenylation specific factor 4 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001129885.1	1858	Intron			NP_001123357.1
XM_011525115.2	1858	Intron			XP_011523417.1

View Full Product Details