Product Details

SNP ID
rs182459371
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:92534410 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAAATTGTAATATAAAGACCATTAC[A/G]TGACAAAGAAGAAATTGGTTACAGA
Phenotype
MIM: 602136
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PEX1 PubMed Links

Gene Details

Gene
PEX1
Gene Name
peroxisomal biogenesis factor 1
There are no transcripts associated with this gene.

Gene
RBM48
Gene Name
RNA binding motif protein 48
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032120.3 562 Missense Mutation ATG,GTG M153V NP_115496.2
XM_005250636.4 562 Missense Mutation ATG,GTG M153V XP_005250693.1
XM_006716149.3 562 Missense Mutation ATG,GTG M153V XP_006716212.1
XM_006716150.3 562 Missense Mutation ATG,GTG M153V XP_006716213.1
XM_017012709.1 562 UTR 5 XP_016868198.1

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