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AGGCTCGCAGAGGTCAGGGATGCAC[A/G]TAGGACTGGCCCGCACCTTGCAGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607505 MIM: 602877 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PASK 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
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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PASK - PAS domain containing serine/threonine kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001252119.1 | 204 | Intron | NP_001239048.1 | |||
NM_001252120.1 | 204 | Intron | NP_001239049.1 | |||
NM_001252122.1 | 204 | Intron | NP_001239051.1 | |||
NM_001252124.1 | 204 | Intron | NP_001239053.1 | |||
NM_015148.3 | 204 | Intron | NP_055963.2 | |||
XM_005246991.1 | 204 | Intron | XP_005247048.1 | |||
XM_011510826.1 | 204 | Intron | XP_011509128.1 | |||
XM_011510828.1 | 204 | Intron | XP_011509130.1 | |||
XM_011510829.1 | 204 | Intron | XP_011509131.1 | |||
XM_011510830.1 | 204 | Intron | XP_011509132.1 | |||
XM_011510831.2 | 204 | UTR 5 | XP_011509133.1 | |||
XM_011510832.2 | 204 | UTR 5 | XP_011509134.1 | |||
XM_011510833.1 | 204 | Intron | XP_011509135.1 | |||
XM_011510834.1 | 204 | Intron | XP_011509136.1 | |||
XM_011510835.1 | 204 | Intron | XP_011509137.1 | |||
XM_017003634.1 | 204 | Missense Mutation | CGT,TGT | R,C 29 | XP_016859123.1 | |
XM_017003635.1 | 204 | Intron | XP_016859124.1 | |||
XM_017003636.1 | 204 | Intron | XP_016859125.1 |
PPP1R7 - protein phosphatase 1 regulatory subunit 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282409.1 | 204 | UTR 5 | NP_001269338.1 | |||
NM_001282410.1 | 204 | UTR 5 | NP_001269339.1 | |||
NM_001282411.1 | 204 | UTR 5 | NP_001269340.1 | |||
NM_001282412.1 | 204 | Intron | NP_001269341.1 | |||
NM_001282413.1 | 204 | Intron | NP_001269342.1 | |||
NM_001282414.1 | 204 | Intron | NP_001269343.1 | |||
NM_002712.2 | 204 | UTR 5 | NP_002703.1 | |||
XM_011511388.1 | 204 | Intron | XP_011509690.1 |