Product Details

SNP ID

rs143251279

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:73235591 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAGATGATAGGACCAACCATACCT[A/T]CTGATCAAAAAGTTTATCAGTCCAA

Phenotype

Polymorphism

A/T, Transversion 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	244	Missense Mutation	ACT,TCT	T37S	NP_001094091.1
NM_001100622.2	244	Missense Mutation	ACT,TCT	T37S	NP_001094092.1
NM_001288770.1	244	Missense Mutation	ACT,TCT	T37S	NP_001275699.1
NM_001288771.1	244	Missense Mutation	ACT,TCT	T37S	NP_001275700.1
NM_017941.5	244	Missense Mutation	ACT,TCT	T37S	NP_060411.2
XM_005257487.3	244	Missense Mutation	ACT,TCT	T37S	XP_005257544.1
XM_006721966.3	244	Missense Mutation	ACT,TCT	T37S	XP_006722029.1
XM_011524961.1	244	Missense Mutation	ACT,TCT	T37S	XP_011523263.1
XM_011524962.2	244	Missense Mutation	ACT,TCT	T37S	XP_011523264.1
XM_017024806.1	244	Missense Mutation	ACT,TCT	T37S	XP_016880295.1

Gene

CPSF4L

Gene Name

cleavage and polyadenylation specific factor 4 like

There are no transcripts associated with this gene.

Gene

FAM104A

Gene Name

family with sequence similarity 104 member A

There are no transcripts associated with this gene.

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