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GTGGTACTGCTGATAGCTGGGGTAG[C/T]CTGGGGCCGGGGTGCCATCCTTAGG
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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There are no transcripts associated with this gene. |
SLC35A2 - solute carrier family 35 member A2 | ||||||
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There are no transcripts associated with this gene. |
TIMM17B - translocase of inner mitochondrial membrane 17 homolog B (yeast) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001167947.2 | 640 | Missense Mutation | GAC,GGC | D,G 214 | NP_001161419.1 | |
NM_005834.4 | 640 | Missense Mutation | GAC,GGC | D,G 164 | NP_005825.1 |