Product Details

SNP ID
rs138721046
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:35856191 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTTACCAAAGAGATGACTGCTTC[C/G]TGGCGTGCAGTGGCATCTGGGTTCA
Phenotype
MIM: 601574
Polymorphism
C/G, Transversion 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 1352 Missense Mutation CAC,CAG H380Q NP_001308324.1
NM_152781.3 1352 Missense Mutation CAC,CAG H420Q NP_689994.2
XM_005278233.2 1352 Missense Mutation CAC,CAG H386Q XP_005278290.1
XM_005278235.1 1352 Missense Mutation CAC,CAG H346Q XP_005278292.1
XM_006721802.3 1352 Missense Mutation CAC,CAG H238Q XP_006721865.1
XM_011524586.2 1352 Missense Mutation CAC,CAG H386Q XP_011522888.1
XM_017024424.1 1352 Missense Mutation CAC,CAG H420Q XP_016879913.1
Gene
TAF15
Gene Name
TATA-box binding protein associated factor 15
There are no transcripts associated with this gene.

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