Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACAAGACTTCCACTCAGAGATGTCT[A/G]GATTTTGTAAAGCTGCTTTGAACAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602136 | ||||||||||||||||||||
Literature Links: |
PEX1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
PEX1 - peroxisomal biogenesis factor 1 | ||||||
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There are no transcripts associated with this gene. |
RBM48 - RNA binding motif protein 48 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032120.3 | 637 | Missense Mutation | AGA,GGA | R,G 178 | NP_115496.2 | |
XM_005250636.4 | 637 | Missense Mutation | AGA,GGA | R,G 178 | XP_005250693.1 | |
XM_006716149.3 | 637 | Missense Mutation | AGA,GGA | R,G 178 | XP_006716212.1 | |
XM_006716150.3 | 637 | Missense Mutation | AGA,GGA | R,G 178 | XP_006716213.1 | |
XM_017012709.1 | 637 | Missense Mutation | AGA,GGA | R,G 3 | XP_016868198.1 |