Product Details

SNP ID
rs11046076
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:21471375 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACCGTTTATTCTGTTGCAATTTTT[A/T]AAAAAAAACCATAAAGACAACCTGA
Phenotype
MIM: 600537
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
PYROXD1 PubMed Links

Gene Details

Gene
PYROXD1
Gene Name
pyridine nucleotide-disulphide oxidoreductase domain 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024854.3 Intron NP_079130.2
XM_006719153.3 Intron XP_006719216.1
XM_017019976.1 Intron XP_016875465.1
Gene
RECQL
Gene Name
RecQ like helicase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002907.3 Intron NP_002898.2
NM_032941.2 Intron NP_116559.1
XM_005253461.3 Intron XP_005253518.1
XM_005253462.4 Intron XP_005253519.1
XM_005253463.3 Intron XP_005253520.1
XM_005253464.3 Intron XP_005253521.1

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