Product Details

SNP ID

rs149730486

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:73242973 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGCTCTTCACAGGATACTTCGTC[C/T]TGTGTTGTAGCTGGAGTTTCAGACG

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	1834	Silent Mutation	CTG,TTG	L531L	NP_001094091.1
NM_001100622.2	1834	Silent Mutation	CTG,TTG	L567L	NP_001094092.1
NM_001288770.1	1834	Silent Mutation	CTG,TTG	L531L	NP_001275699.1
NM_001288771.1	1834	Silent Mutation	CTG,TTG	L531L	NP_001275700.1
NM_017941.5	1834	Silent Mutation	CTG,TTG	L567L	NP_060411.2
XM_005257487.3	1834	Silent Mutation	CTG,TTG	L567L	XP_005257544.1
XM_006721966.3	1834	Silent Mutation	CTG,TTG	L531L	XP_006722029.1
XM_011524961.1	1834	Silent Mutation	CTG,TTG	L567L	XP_011523263.1
XM_011524962.2	1834	Silent Mutation	CTG,TTG	L567L	XP_011523264.1
XM_017024806.1	1834	Silent Mutation	CTG,TTG	L567L	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	1834	Intron			NP_001123357.1
XM_011525115.2	1834	Intron			XP_011523417.1

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