Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GACAACAACCGTGAGCCCCACAGCG[C/T]TGAGAGTGATGTGACTCGCTTTTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
HYPM 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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HYPM - huntingtin interacting protein M | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012274.1 | 316 | Missense Mutation | GCT,GTT | A,V 98 | NP_036406.1 |
SYTL5 - synaptotagmin like 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001163334.1 | 316 | Intron | NP_001156806.1 | |||
NM_001163335.1 | 316 | Intron | NP_001156807.1 | |||
NM_138780.2 | 316 | Intron | NP_620135.1 | |||
XM_011544001.2 | 316 | Intron | XP_011542303.1 | |||
XM_011544002.2 | 316 | Intron | XP_011542304.1 | |||
XM_017029972.1 | 316 | Intron | XP_016885461.1 | |||
XM_017029973.1 | 316 | Intron | XP_016885462.1 | |||
XM_017029974.1 | 316 | Intron | XP_016885463.1 |