Product Details

SNP ID
rs2290241
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:7188747 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GCATTATTGCCCTTGGTCATTTACC[A/G]GCAGCCCTGGGCCCCTCCTTGCTCT
Phenotype
MIM: 600414
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PEX5 PubMed Links

Gene Details

Gene
PEX5
Gene Name
peroxisomal biogenesis factor 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000319.4 676 Intron NP_000310.2
NM_001131023.1 676 Intron NP_001124495.1
NM_001131024.1 676 Intron NP_001124496.1
NM_001131025.1 676 Intron NP_001124497.1
NM_001131026.1 676 Intron NP_001124498.1
NM_001300789.1 676 Intron NP_001287718.1
XM_005253455.1 676 Intron XP_005253512.1
XM_011520793.2 676 Intron XP_011519095.1
XM_011520795.1 676 Intron XP_011519097.1
XM_011520797.1 676 Intron XP_011519099.1
XM_011520798.1 676 Intron XP_011519100.1
XM_011520799.2 676 Intron XP_011519101.1
XM_011520800.1 676 Intron XP_011519102.1
XM_011520801.2 676 Intron XP_011519103.1
XM_011520802.2 676 Intron XP_011519104.1
XM_017019744.1 676 Intron XP_016875233.1
XM_017019745.1 676 Intron XP_016875234.1
XM_017019746.1 676 Intron XP_016875235.1
XM_017019747.1 676 Intron XP_016875236.1
XM_017019748.1 676 Intron XP_016875237.1
XM_017019749.1 676 Intron XP_016875238.1
XM_017019750.1 676 Intron XP_016875239.1
XM_017019751.1 676 Intron XP_016875240.1
XM_017019752.1 676 Intron XP_016875241.1
XM_017019753.1 676 Intron XP_016875242.1
XM_017019754.1 676 Intron XP_016875243.1
XM_017019755.1 676 UTR 5 XP_016875244.1
XM_017019756.1 676 Intron XP_016875245.1
XM_017019757.1 676 Intron XP_016875246.1

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