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AGTACAGCGCTGGCGCTACGGCAAG[G/T]TCTGCCTGCGCTCCCTGCTCTACAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606493 MIM: 614777 MIM: 616750 | ||||||||||||||||||||
Literature Links: |
EXOSC1 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 |
EXOSC1 - exosome component 1 | ||||||
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There are no transcripts associated with this gene. |
MMS19 - MMS19 homolog, cytosolic iron-sulfur assembly component | ||||||
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There are no transcripts associated with this gene. |
ZDHHC16 - zinc finger DHHC-type containing 16 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001287803.1 | 346 | Missense Mutation | GTC,TTC | V,F 44 | NP_001274732.1 | |
NM_001287804.1 | 346 | Missense Mutation | GTC,TTC | V,F 44 | NP_001274733.1 | |
NM_032327.3 | 346 | Missense Mutation | GTC,TTC | V,F 44 | NP_115703.2 | |
NM_198043.2 | 346 | Missense Mutation | GTC,TTC | V,F 44 | NP_932160.1 | |
NM_198044.2 | 346 | Missense Mutation | GTC,TTC | V,F 44 | NP_932161.1 | |
NM_198045.2 | 346 | Missense Mutation | GTC,TTC | V,F 44 | NP_932162.1 | |
NM_198046.2 | 346 | Missense Mutation | GTC,TTC | V,F 44 | NP_932163.1 | |
XM_006718021.1 | 346 | Missense Mutation | GTC,TTC | V,F 44 | XP_006718084.1 | |
XM_006718022.1 | 346 | Missense Mutation | GTC,TTC | V,F 44 | XP_006718085.1 | |
XM_006718023.1 | 346 | Missense Mutation | GTC,TTC | V,F 44 | XP_006718086.1 | |
XM_006718024.1 | 346 | Missense Mutation | GTC,TTC | V,F 44 | XP_006718087.1 | |
XM_006718025.1 | 346 | Missense Mutation | GTC,TTC | V,F 44 | XP_006718088.1 | |
XM_006718026.1 | 346 | Missense Mutation | GTC,TTC | V,F 44 | XP_006718089.1 | |
XM_017016766.1 | 346 | Missense Mutation | GTC,TTC | V,F 44 | XP_016872255.1 | |
XM_017016767.1 | 346 | Missense Mutation | GTC,TTC | V,F 44 | XP_016872256.1 | |
XM_017016768.1 | 346 | Missense Mutation | GTC,TTC | V,F 44 | XP_016872257.1 | |
XM_017016769.1 | 346 | Missense Mutation | GTC,TTC | V,F 44 | XP_016872258.1 | |
XM_017016770.1 | 346 | Missense Mutation | GTC,TTC | V,F 44 | XP_016872259.1 | |
XM_017016771.1 | 346 | Missense Mutation | GTC,TTC | V,F 44 | XP_016872260.1 | |
XM_017016772.1 | 346 | Missense Mutation | GTC,TTC | V,F 44 | XP_016872261.1 | |
XM_017016773.1 | 346 | UTR 5 | XP_016872262.1 | |||
XM_017016774.1 | 346 | UTR 5 | XP_016872263.1 |