Product Details

SNP ID

rs147730752

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:7191237 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCCTTCTGGCAGTTGGTGGCTGA[A/C]TTCCTGCAGGACCAGAATGCACCCC

Phenotype

MIM: 600414

Polymorphism

A/C, Transversion 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	552	Missense Mutation	GAA,GAC	E65D	NP_000310.2
NM_001131023.1	552	Missense Mutation	GAA,GAC	E80D	NP_001124495.1
NM_001131024.1	552	Missense Mutation	GAA,GAC	E65D	NP_001124496.1
NM_001131025.1	552	Missense Mutation	GAA,GAC	E65D	NP_001124497.1
NM_001131026.1	552	Missense Mutation	GAA,GAC	E65D	NP_001124498.1
NM_001300789.1	552	Missense Mutation	GAA,GAC	E86D	NP_001287718.1
XM_005253455.1	552	Missense Mutation	GAA,GAC	E86D	XP_005253512.1
XM_011520793.2	552	Missense Mutation	GAA,GAC	E101D	XP_011519095.1
XM_011520795.1	552	Missense Mutation	GAA,GAC	E80D	XP_011519097.1
XM_011520797.1	552	Missense Mutation	GAA,GAC	E65D	XP_011519099.1
XM_011520798.1	552	Missense Mutation	GAA,GAC	E65D	XP_011519100.1
XM_011520799.2	552	Missense Mutation	GAA,GAC	E65D	XP_011519101.1
XM_011520800.1	552	Missense Mutation	GAA,GAC	E65D	XP_011519102.1
XM_011520801.2	552	Missense Mutation	GAA,GAC	E101D	XP_011519103.1
XM_011520802.2	552	UTR 5			XP_011519104.1
XM_017019744.1	552	Missense Mutation	GAA,GAC	E213D	XP_016875233.1
XM_017019745.1	552	Missense Mutation	GAA,GAC	E213D	XP_016875234.1
XM_017019746.1	552	Missense Mutation	GAA,GAC	E213D	XP_016875235.1
XM_017019747.1	552	Missense Mutation	GAA,GAC	E213D	XP_016875236.1
XM_017019748.1	552	Missense Mutation	GAA,GAC	E80D	XP_016875237.1
XM_017019749.1	552	Missense Mutation	GAA,GAC	E65D	XP_016875238.1
XM_017019750.1	552	Missense Mutation	GAA,GAC	E65D	XP_016875239.1
XM_017019751.1	552	Missense Mutation	GAA,GAC	E80D	XP_016875240.1
XM_017019752.1	552	Missense Mutation	GAA,GAC	E65D	XP_016875241.1
XM_017019753.1	552	Missense Mutation	GAA,GAC	E65D	XP_016875242.1
XM_017019754.1	552	Missense Mutation	GAA,GAC	E65D	XP_016875243.1
XM_017019755.1	552	Missense Mutation	GAA,GAC	E65D	XP_016875244.1
XM_017019756.1	552	Missense Mutation	GAA,GAC	E65D	XP_016875245.1
XM_017019757.1	552	Missense Mutation	GAA,GAC	E65D	XP_016875246.1

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