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SNP ID: rs1129171
Assay Type: Functionally tested
NCBI dbSNP Submissions: 49
Location: Chr.1:2405593 on Build GRCh38
Set Membership: JSNP
Context Sequence [VIC/FAM]: GGCGCCCCTCCCAGGGCTGAGAAAG[T/C]GCAGCCAGGGACAGCTTTCTGTTCT
Phenotype: MIM: 602859 MIM: 612836
Polymorphism: T/C, Transition substitution
Allele Nomenclature
Literature Links: PEX10 PubMed Links

Gene Details

Gene: PEX10
Gene Name: peroxisomal biogenesis factor 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002617.3	1283	UTR 3			NP_002608.1
NM_153818.1	1283	UTR 3			NP_722540.1
XM_011541573.1	1283	UTR 3			XP_011539875.1
XM_011541576.1	1283	Intron			XP_011539878.1

Gene: PLCH2
Gene Name: phospholipase C eta 2

There are no transcripts associated with this gene.

Gene: RER1
Gene Name: retention in endoplasmic reticulum sorting receptor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007033.4	1283	Intron			NP_008964.3
XM_005244713.4	1283	Intron			XP_005244770.2
XM_006710306.2	1283	Intron			XP_006710369.1
XM_011540542.1	1283	Intron			XP_011538844.1
XM_011540543.1	1283	Intron			XP_011538845.1
XM_017000131.1	1283	Intron			XP_016855620.1
XM_017000132.1	1283	Intron			XP_016855621.1
XM_017000133.1	1283	Intron			XP_016855622.1
XM_017000134.1	1283	Intron			XP_016855623.1
XM_017000135.1	1283	Intron			XP_016855624.1

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