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TCTAAGAAAACAGTTTCTTGTTTTG[C/T]GAACTTCACCAGACTACAGCAGATC
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 194 | Intron | NP_001123919.1 | |||
NM_001323629.1 | 194 | Missense Mutation | GCG,GTG | A,V 45 | NP_001310558.1 | |
NM_001323630.1 | 194 | UTR 5 | NP_001310559.1 | |||
NM_001323631.1 | 194 | UTR 5 | NP_001310560.1 | |||
NM_001323632.1 | 194 | UTR 5 | NP_001310561.1 | |||
NM_018097.2 | 194 | Missense Mutation | GCG,GTG | A,V 45 | NP_060567.1 | |
XM_017022396.1 | 194 | Intron | XP_016877885.1 | |||
XM_017022397.1 | 194 | Intron | XP_016877886.1 |
LRRC57 - leucine rich repeat containing 57 | ||||||
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There are no transcripts associated with this gene. |