Product Details

SNP ID
rs150191467
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:74519596 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGACACCAGTGCTTTCTGAAGGTCT[C/T]TGCGATTCTGCTCAGAGCCAAAGGC
Phenotype
MIM: 602434 MIM: 606441 MIM: 604240
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
AUP1 PubMed Links

Gene Details

Gene
AUP1
Gene Name
ancient ubiquitous protein 1
There are no transcripts associated with this gene.

Gene
DQX1
Gene Name
DEAQ-box RNA dependent ATPase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_133637.2 1219 Missense Mutation AAA,AGA K589R NP_598376.2
XM_011532644.1 1219 Missense Mutation AAA,AGA K471R XP_011530946.1
XM_011532645.1 1219 Missense Mutation AAA,AGA K347R XP_011530947.1
XM_011532646.2 1219 Intron XP_011530948.1
XM_017003520.1 1219 Missense Mutation AAA,AGA K257R XP_016859009.1
Gene
HTRA2
Gene Name
HtrA serine peptidase 2
There are no transcripts associated with this gene.

Gene
TLX2
Gene Name
T-cell leukemia homeobox 2
There are no transcripts associated with this gene.

View Full Product Details