Product Details

SNP ID
rs114102494
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:35855154 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTGGCCTATGTTTTCGTGGTTTC[A/G]AGCAGCACGGTGGGAAAGCAGGCGT
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 1714 Missense Mutation TCG,TTG S501L NP_001308324.1
NM_152781.3 1714 Missense Mutation TCG,TTG S541L NP_689994.2
XM_005278233.2 1714 Missense Mutation TCG,TTG S507L XP_005278290.1
XM_005278235.1 1714 Missense Mutation TCG,TTG S467L XP_005278292.1
XM_006721802.3 1714 Missense Mutation TCG,TTG S359L XP_006721865.1
XM_011524586.2 1714 Missense Mutation TCG,TTG S507L XP_011522888.1
XM_017024424.1 1714 Intron 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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