Product Details

SNP ID
rs56104025
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:92534485 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAAGACTTCCACTCAGAGATGTCT[A/G]GATTTTGTAAAGCTGCTTTGAACAC
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_032120.3 637 Missense Mutation AGA,GGA R178G NP_115496.2
XM_005250636.4 637 Missense Mutation AGA,GGA R178G XP_005250693.1
XM_006716149.3 637 Missense Mutation AGA,GGA R178G XP_006716212.1
XM_006716150.3 637 Missense Mutation AGA,GGA R178G XP_006716213.1
XM_017012709.1 637 Missense Mutation AGA,GGA R3G XP_016868198.1

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