Product Details

SNP ID
rs116400393
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:35855242 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACAAGGGGTTCAGCTTTGCAAGTC[A/G]AAAGTCTTGAATAGTTAACTCTTCT
Phenotype
MIM: 601574
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HEATR9 PubMed Links

Gene Details

Gene
HEATR9
Gene Name
HEAT repeat containing 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321395.1 1626 Nonsense Mutation CGA,TGA R472* NP_001308324.1
NM_152781.3 1626 Nonsense Mutation CGA,TGA R512* NP_689994.2
XM_005278233.2 1626 Nonsense Mutation CGA,TGA R478* XP_005278290.1
XM_005278235.1 1626 Nonsense Mutation CGA,TGA R438* XP_005278292.1
XM_006721802.3 1626 Nonsense Mutation CGA,TGA R330* XP_006721865.1
XM_011524586.2 1626 Nonsense Mutation CGA,TGA R478* XP_011522888.1
XM_017024424.1 1626 Intron XP_016879913.1
Gene
TAF15
Gene Name
TATA-box binding protein associated factor 15
There are no transcripts associated with this gene.

View Full Product Details