Product Details

SNP ID

rs138618143

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:100826686 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTGATGCAAGCTTCTATGCAGG[C/G]TGGAGTTCCAGCACCAGGGCAAATG

Phenotype

MIM: 300907

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CSTF2 PubMed Links

Gene Details

Gene

CSTF2

Gene Name

cleavage stimulation factor subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001306206.1	809	Missense Mutation	GCT,GGT	A252G	NP_001293135.1
NM_001306209.1	809	Missense Mutation	GCT,GGT	A235G	NP_001293138.1
NM_001325.2	809	Missense Mutation	GCT,GGT	A252G	NP_001316.1

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