Product Details

SNP ID
rs200044823
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:97643248 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCTGACAATTTATACAACATTAG[C/T]TGGACTACTGAATGCCAGGAATTAC
Phenotype
MIM: 600469
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NCBP1 PubMed Links

Gene Details

Gene
NCBP1
Gene Name
nuclear cap binding protein subunit 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002486.4 566 Missense Mutation GCT,GTT A90V NP_002477.1
XM_011518715.2 566 Missense Mutation GCT,GTT A90V XP_011517017.1
XM_017014735.1 566 Missense Mutation GCT,GTT A23V XP_016870224.1
XM_017014736.1 566 UTR 5 XP_016870225.1
XM_017014737.1 566 UTR 5 XP_016870226.1
XM_017014738.1 566 UTR 5 XP_016870227.1
Gene
TSTD2
Gene Name
thiosulfate sulfurtransferase like domain containing 2
There are no transcripts associated with this gene.

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