Product Details

SNP ID
rs146966335
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:69133533 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAGGAATCCGCTGTGTGGCTTACA[A/G]TAACCAGTCAAACAGATTGGCTGTT
Phenotype
MIM: 613202 MIM: 607456
Polymorphism
A/G, Transition 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_001039690.3 116 Intron NP_001034779.1
NM_001040146.3 116 Intron NP_001035236.1
XM_011523167.1 116 Intron XP_011521469.1
XM_011523168.1 116 Intron XP_011521470.1
XM_017023370.1 116 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_001318391.1 116 UTR 5 NP_001305320.1
NM_032830.2 116 Missense Mutation AAT,AGT N25S NP_116219.2
XM_005256205.3 116 Intron XP_005256262.2

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