Product Details

SNP ID
rs145649593
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:7190511 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGCCCCTGGCCCCCCGGAGCCC[C/T]GGCCTCTGAGGCAGTGAGTGTTCTT
Phenotype
MIM: 600414
Polymorphism
C/T, 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_000319.4 491 Missense Mutation CCG,CTG P45L NP_000310.2
NM_001131023.1 491 Missense Mutation CCG,CTG P45L NP_001124495.1
NM_001131024.1 491 Missense Mutation CCG,CTG P45L NP_001124496.1
NM_001131025.1 491 Missense Mutation CCG,CTG P45L NP_001124497.1
NM_001131026.1 491 Missense Mutation CCG,CTG P45L NP_001124498.1
NM_001300789.1 491 Missense Mutation CCG,CTG P66L NP_001287718.1
XM_005253455.1 491 Missense Mutation CCG,CTG P66L XP_005253512.1
XM_011520793.2 491 Missense Mutation CCG,CTG P66L XP_011519095.1
XM_011520795.1 491 Missense Mutation CCG,CTG P45L XP_011519097.1
XM_011520797.1 491 Missense Mutation CCG,CTG P45L XP_011519099.1
XM_011520798.1 491 Missense Mutation CCG,CTG P45L XP_011519100.1
XM_011520799.2 491 Missense Mutation CCG,CTG P45L XP_011519101.1
XM_011520800.1 491 Missense Mutation CCG,CTG P45L XP_011519102.1
XM_011520801.2 491 Missense Mutation CCG,CTG P66L XP_011519103.1
XM_011520802.2 491 Intron XP_011519104.1
XM_017019744.1 491 Missense Mutation CCG,CTG P193L XP_016875233.1
XM_017019745.1 491 Missense Mutation CCG,CTG P193L XP_016875234.1
XM_017019746.1 491 Missense Mutation CCG,CTG P193L XP_016875235.1
XM_017019747.1 491 Missense Mutation CCG,CTG P193L XP_016875236.1
XM_017019748.1 491 Missense Mutation CCG,CTG P45L XP_016875237.1
XM_017019749.1 491 Missense Mutation CCG,CTG P45L XP_016875238.1
XM_017019750.1 491 Missense Mutation CCG,CTG P45L XP_016875239.1
XM_017019751.1 491 Missense Mutation CCG,CTG P45L XP_016875240.1
XM_017019752.1 491 Missense Mutation CCG,CTG P45L XP_016875241.1
XM_017019753.1 491 Missense Mutation CCG,CTG P45L XP_016875242.1
XM_017019754.1 491 Missense Mutation CCG,CTG P45L XP_016875243.1
XM_017019755.1 491 Missense Mutation CCG,CTG P45L XP_016875244.1
XM_017019756.1 491 Missense Mutation CCG,CTG P45L XP_016875245.1
XM_017019757.1 491 Missense Mutation CCG,CTG P45L XP_016875246.1

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