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GGCCACTGCAAGTCTATAAAGAACA[C/T]GCTCAGGAGGTAGGAGGGAAATCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601757 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PEX7 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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PEX7 - peroxisomal biogenesis factor 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000288.3 | 776 | Silent Mutation | CAC,CAT | H,H 110 | NP_000279.1 | |
XM_005267019.4 | 776 | Missense Mutation | CAC,CAT | H,H 72 | XP_005267076.1 | |
XM_006715502.1 | 776 | Silent Mutation | CAC,CAT | H,H 110 | XP_006715565.1 | |
XM_017010934.1 | 776 | Missense Mutation | CAC,CAT | H,H 110 | XP_016866423.1 |