Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTGAGGATATCATAGTGAGTGAAGA[A/T]GTCCATGCTGTGGTAATGCCTGTGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602434 MIM: 606441 MIM: 607163 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
AUP1 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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AUP1 - ancient ubiquitous protein 1 | ||||||
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There are no transcripts associated with this gene. |
DQX1 - DEAQ-box RNA dependent ATPase 1 | ||||||
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There are no transcripts associated with this gene. |
HTRA2 - HtrA serine peptidase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001321727.1 | 1904 | Intron | NP_001308656.1 | |||
NM_001321728.1 | 1904 | Intron | NP_001308657.1 | |||
NM_013247.4 | 1904 | Intron | NP_037379.1 | |||
NM_145074.2 | 1904 | Intron | NP_659540.1 |
LOXL3 - lysyl oxidase like 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001289164.1 | 1904 | Missense Mutation | ATC,TTC | I,F 470 | NP_001276093.1 | |
NM_001289165.1 | 1904 | Missense Mutation | ATC,TTC | I,F 254 | NP_001276094.1 | |
NM_032603.3 | 1904 | Missense Mutation | ATC,TTC | I,F 615 | NP_115992.1 | |
XM_011533134.2 | 1904 | Missense Mutation | ATC,TTC | I,F 615 | XP_011531436.1 | |
XM_017005112.1 | 1904 | Missense Mutation | ATC,TTC | I,F 254 | XP_016860601.1 |
Set Membership: |
HapMap |