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TTTGTGAACTTCACCAGACTACAGC[A/C]GATCACAAATATTCAAGCTGAAATC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613429 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HAUS2 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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HAUS2 - HAUS augmin like complex subunit 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130447.1 | 215 | Intron | NP_001123919.1 | |||
NM_001323629.1 | 215 | Missense Mutation | CAG,CCG | Q,P 52 | NP_001310558.1 | |
NM_001323630.1 | 215 | UTR 5 | NP_001310559.1 | |||
NM_001323631.1 | 215 | UTR 5 | NP_001310560.1 | |||
NM_001323632.1 | 215 | UTR 5 | NP_001310561.1 | |||
NM_018097.2 | 215 | Missense Mutation | CAG,CCG | Q,P 52 | NP_060567.1 | |
XM_017022396.1 | 215 | Intron | XP_016877885.1 | |||
XM_017022397.1 | 215 | Intron | XP_016877886.1 |
LRRC57 - leucine rich repeat containing 57 | ||||||
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There are no transcripts associated with this gene. |