Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CGCATCAGGACTGTGCTCATGTTCC[A/G]GGACAGCAGGCAGTCCAGCAATGAG
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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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000466.2 | 2152 | Missense Mutation | CCG,CTG | P,L 674 | NP_000457.1 | |
NM_001282677.1 | 2152 | Intron | NP_001269606.1 | |||
NM_001282678.1 | 2152 | Missense Mutation | CCG,CTG | P,L 466 | NP_001269607.1 | |
XM_017012319.1 | 2152 | Missense Mutation | CCG,CTG | P,L 91 | XP_016867808.1 |