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AAGAGCTGCTGCCCATCTCCCTCCA[C/G]GTGGATGGACCTCACGGGCAGCTCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613434 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HAUS8 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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HAUS8 - HAUS augmin like complex subunit 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001011699.1 | 871 | Missense Mutation | CTG,GTG | L,V 253 | NP_001011699.1 | |
NM_033417.1 | 871 | Missense Mutation | CTG,GTG | L,V 254 | NP_219485.1 | |
XM_005260154.4 | 871 | Missense Mutation | CTG,GTG | L,V 109 | XP_005260211.1 |