Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AAAAAGGCATGAGGGGTCGTCTTCG[G/T]AATCTGTGCCACCCGGCACTACCAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
|
||||||||||||||||||||
Phenotype: |
MIM: 609176 MIM: 610824 | ||||||||||||||||||||
Literature Links: |
PMF1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
PMF1 - polyamine-modulated factor 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199653.1 | 98 | Nonsense Mutation | GAA,TAA | E,* 24 | NP_001186582.1 | |
NM_001199654.1 | 98 | Nonsense Mutation | GAA,TAA | E,* 24 | NP_001186583.1 | |
NM_007221.3 | 98 | Nonsense Mutation | GAA,TAA | E,* 24 | NP_009152.2 |
PMF1-BGLAP - PMF1-BGLAP readthrough | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199661.1 | 98 | Nonsense Mutation | GAA,TAA | E,* 24 | NP_001186590.1 | |
NM_001199662.1 | 98 | Nonsense Mutation | GAA,TAA | E,* 24 | NP_001186591.1 | |
NM_001199663.1 | 98 | Nonsense Mutation | GAA,TAA | E,* 24 | NP_001186592.1 | |
NM_001199664.1 | 98 | Nonsense Mutation | GAA,TAA | E,* 24 | NP_001186593.1 |
SLC25A44 - solute carrier family 25 member 44 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286184.1 | 98 | Intron | NP_001273113.1 | |||
NM_014655.3 | 98 | Intron | NP_055470.1 | |||
XM_006711657.3 | 98 | Intron | XP_006711720.1 | |||
XM_011510180.1 | 98 | Intron | XP_011508482.1 | |||
XM_011510181.1 | 98 | Intron | XP_011508483.1 | |||
XM_017002904.1 | 98 | Intron | XP_016858393.1 | |||
XM_017002905.1 | 98 | Intron | XP_016858394.1 | |||
XM_017002906.1 | 98 | Intron | XP_016858395.1 | |||
XM_017002907.1 | 98 | Intron | XP_016858396.1 | |||
XM_017002908.1 | 98 | Intron | XP_016858397.1 |