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ACACAGATAAACTCTTTGAAAAACT[C/T]AGTGGCCTGCCCTGGTGCACAAAAG
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 | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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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 | 869 | Missense Mutation | TCA,TTA | S,L 255 | NP_115496.2 | |
XM_005250636.4 | 869 | Missense Mutation | TCA,TTA | S,L 255 | XP_005250693.1 | |
XM_006716149.3 | 869 | Missense Mutation | TCA,TTA | S,L 255 | XP_006716212.1 | |
XM_006716150.3 | 869 | Missense Mutation | TCA,TTA | S,L 255 | XP_006716213.1 | |
XM_017012709.1 | 869 | Missense Mutation | TCA,TTA | S,L 80 | XP_016868198.1 |