Product Details

SNP ID
rs57007118
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:61018063 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGACCCGGCAGCTCTAATCAGCA[A/G]CGTTTTTTTCGGGAGCTCCTGGGCG
Phenotype
MIM: 601789 MIM: 612787
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PEX13 PubMed Links

Gene Details

Gene
PEX13
Gene Name
peroxisomal biogenesis factor 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002618.3 221 Intron NP_002609.1
Gene
PUS10
Gene Name
pseudouridylate synthase 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001322123.1 221 Intron NP_001309052.1
NM_001322124.1 221 Intron NP_001309053.1
NM_001322127.1 221 UTR 5 NP_001309056.1
NM_144709.3 221 UTR 5 NP_653310.2
XM_011532568.2 221 UTR 5 XP_011530870.1
XM_011532570.1 221 Intron XP_011530872.1
XM_011532571.1 221 Intron XP_011530873.1
XM_011532572.1 221 Intron XP_011530874.1
XM_011532573.2 221 Intron XP_011530875.1
XM_011532574.2 221 Intron XP_011530876.1
XM_011532576.2 221 Intron XP_011530878.1
XM_011532578.1 221 Intron XP_011530880.1
XM_017003428.1 221 UTR 5 XP_016858917.1
XM_017003429.1 221 Intron XP_016858918.1

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