Product Details

SNP ID
rs74886292
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:69133557 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATAACCAGTCAAACAGATTGGCTG[G/T]TTCACGAACAGATGGCACTGTGGAA
Phenotype
MIM: 613202 MIM: 607456
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
CHTF8 PubMed Links

Gene Details

Gene
CHTF8
Gene Name
chromosome transmission fidelity factor 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039690.3 140 Intron NP_001034779.1
NM_001040146.3 140 Intron NP_001035236.1
XM_011523167.1 140 Intron XP_011521469.1
XM_011523168.1 140 Intron XP_011521470.1
XM_017023370.1 140 Intron XP_016878859.1
Gene
UTP4
Gene Name
UTP4, small subunit processome component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318391.1 140 UTR 5 NP_001305320.1
NM_032830.2 140 Missense Mutation GGT,GTT G33V NP_116219.2
XM_005256205.3 140 Intron XP_005256262.2

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