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GCCCTGCCACTTCCACAGCAGTAAG[C/T]CGAAAGGATGAAGAGTTAGACCCCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300463 MIM: 314375 MIM: 300249 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PQBP1 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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PQBP1 - polyglutamine binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001032381.1 | 664 | Silent Mutation | AGC,AGT | S,S 195 | NP_001027553.1 | |
NM_001032382.1 | 664 | Silent Mutation | AGC,AGT | S,S 195 | NP_001027554.1 | |
NM_001032383.1 | 664 | Silent Mutation | AGC,AGT | S,S 195 | NP_001027555.1 | |
NM_001032384.1 | 664 | Silent Mutation | AGC,AGT | S,S 195 | NP_001027556.1 | |
NM_001167989.1 | 664 | Silent Mutation | AGC,AGT | S,S 194 | NP_001161461.1 | |
NM_001167990.1 | 664 | Silent Mutation | AGC,AGT | S,S 187 | NP_001161462.1 | |
NM_001167992.1 | 664 | Silent Mutation | AGC,AGT | S,S 95 | NP_001161464.1 | |
NM_005710.2 | 664 | Silent Mutation | AGC,AGT | S,S 195 | NP_005701.1 | |
NM_144495.2 | 664 | Silent Mutation | AGC,AGT | S,S 100 | NP_652766.1 | |
XM_005272571.3 | 664 | Silent Mutation | AGC,AGT | S,S 194 | XP_005272628.1 | |
XM_005272572.4 | 664 | Silent Mutation | AGC,AGT | S,S 100 | XP_005272629.1 | |
XM_011543884.2 | 664 | Silent Mutation | AGC,AGT | S,S 195 | XP_011542186.1 | |
XM_017029207.1 | 664 | Silent Mutation | AGC,AGT | S,S 194 | XP_016884696.1 |
SLC35A2 - solute carrier family 35 member A2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001032289.2 | 664 | Intron | NP_001027460.1 | |||
NM_001042498.2 | 664 | Intron | NP_001035963.1 | |||
NM_001282647.1 | 664 | Intron | NP_001269576.1 | |||
NM_001282648.1 | 664 | Intron | NP_001269577.1 | |||
NM_001282649.1 | 664 | Intron | NP_001269578.1 | |||
NM_001282650.1 | 664 | Intron | NP_001269579.1 | |||
NM_001282651.1 | 664 | Intron | NP_001269580.1 | |||
NM_005660.2 | 664 | Intron | NP_005651.1 |
TIMM17B - translocase of inner mitochondrial membrane 17 homolog B (yeast) | ||||||
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There are no transcripts associated with this gene. |