Product Details

SNP ID
rs187507005
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:92534527 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGAACACTTCTGCAGGGAACTCA[A/T]ATCCTTATCTTCCGTATTCCTGTGA
Phenotype
MIM: 602136
Polymorphism
A/T, Transversion 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_032120.3 679 Missense Mutation AAT,TAT N192Y NP_115496.2
XM_005250636.4 679 Missense Mutation AAT,TAT N192Y XP_005250693.1
XM_006716149.3 679 Missense Mutation AAT,TAT N192Y XP_006716212.1
XM_006716150.3 679 Missense Mutation AAT,TAT N192Y XP_006716213.1
XM_017012709.1 679 Missense Mutation AAT,TAT N17Y XP_016868198.1

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