Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCAGTCGAGCGCCACGGCTGCTCAT[C/T]GGATGATCCAGGATGGGTCCTTGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 171840 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
PFKP 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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PFKP - phosphofructokinase, platelet | ||||||
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There are no transcripts associated with this gene. |
PITRM1 - pitrilysin metallopeptidase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001242307.1 | 3076 | Missense Mutation | CAA,CGA | Q,R 1038 | NP_001229236.1 | |
NM_001242309.1 | 3076 | Missense Mutation | CAA,CGA | Q,R 939 | NP_001229238.1 | |
NM_014889.3 | 3076 | Missense Mutation | CAA,CGA | Q,R 1037 | NP_055704.2 | |
XM_005252345.3 | 3076 | Missense Mutation | CAA,CGA | Q,R 971 | XP_005252402.1 | |
XM_017015470.1 | 3076 | Missense Mutation | CAA,CGA | Q,R 1029 | XP_016870959.1 | |
XM_017015471.1 | 3076 | Missense Mutation | CAA,CGA | Q,R 963 | XP_016870960.1 | |
XM_017015472.1 | 3076 | Missense Mutation | CAA,CGA | Q,R 832 | XP_016870961.1 | |
XM_017015473.1 | 3076 | Missense Mutation | CAA,CGA | Q,R 766 | XP_016870962.1 |
PITRM1-AS1 - PITRM1 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |
SNORD142 - small nucleolar RNA, C/D box 142 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |