Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCGAACCCGACTCACAGCAGTGATT[C/T]GCATGATAGCAGCAGCATCTCCCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 613397 MIM: 604723 | ||||||||||||||||||||
Literature Links: |
AVIL 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 |
AVIL - advillin | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006576.3 | 5051 | Missense Mutation | NP_006567.3 | |||
XM_017018710.1 | 5051 | Missense Mutation | XP_016874199.1 | |||
XM_017018711.1 | 5051 | Missense Mutation | XP_016874200.1 | |||
XM_017018712.1 | 5051 | Missense Mutation | XP_016874201.1 | |||
XM_017018713.1 | 5051 | Missense Mutation | XP_016874202.1 | |||
XM_017018714.1 | 5051 | Missense Mutation | XP_016874203.1 | |||
XM_017018715.1 | 5051 | Missense Mutation | XP_016874204.1 |
TSFM - Ts translation elongation factor, mitochondrial | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001172695.1 | 5051 | Intron | NP_001166166.1 | |||
NM_001172696.1 | 5051 | Intron | NP_001166167.1 | |||
NM_001172697.1 | 5051 | Intron | NP_001166168.1 | |||
NM_005726.5 | 5051 | Intron | NP_005717.3 |