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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