Product Details

SNP ID
rs1045619
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58205524 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTAAAAGATACCACCCAGCTAGCA[A/G]AAAGGACTCAGCACTGCCTTCAGCC
Phenotype
MIM: 131399 MIM: 609883
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EPX PubMed Links

Gene Details

Gene
EPX
Gene Name
eosinophil peroxidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000502.5 2324 Intron NP_000493.1
Gene
MKS1
Gene Name
Meckel syndrome, type 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001165927.1 2324 UTR 3 NP_001159399.1
NM_001321268.1 2324 UTR 3 NP_001308197.1
NM_001321269.1 2324 UTR 3 NP_001308198.1
NM_017777.3 2324 UTR 3 NP_060247.2
XM_005257485.3 2324 UTR 3 XP_005257542.1
XM_006721965.2 2324 UTR 3 XP_006722028.1
XM_011524957.2 2324 UTR 3 XP_011523259.1
XM_011524958.2 2324 UTR 3 XP_011523260.1
XM_011524959.2 2324 UTR 3 XP_011523261.1
XM_011524960.2 2324 Intron XP_011523262.1
XM_017024803.1 2324 UTR 3 XP_016880292.1
XM_017024804.1 2324 Intron XP_016880293.1
XM_017024805.1 2324 UTR 3 XP_016880294.1

View Full Product Details