Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TAGAGCCAGCGTGACCAACGACAGC[G/T]GCCCTCGACTGGTGTCCATTGCGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606985 MIM: 612323 | ||||||||||||||||||||
Literature Links: |
ELP4 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 |
ELP4 - elongator acetyltransferase complex subunit 4 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001288725.1 | 183 | Missense Mutation | GGC,TGC | G,C 43 | NP_001275654.1 | |
NM_001288726.1 | 183 | Missense Mutation | GGC,TGC | G,C 43 | NP_001275655.1 | |
NM_019040.4 | 183 | Missense Mutation | GGC,TGC | G,C 43 | NP_061913.3 |
IMMP1L - inner mitochondrial membrane peptidase subunit 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001304274.1 | 183 | Intron | NP_001291203.1 | |||
NM_144981.2 | 183 | Intron | NP_659418.1 | |||
XM_005252812.3 | 183 | Intron | XP_005252869.1 | |||
XM_011519942.1 | 183 | Intron | XP_011518244.1 | |||
XM_011519943.2 | 183 | Intron | XP_011518245.1 | |||
XM_011519944.2 | 183 | Intron | XP_011518246.1 | |||
XM_011519945.2 | 183 | Intron | XP_011518247.1 | |||
XM_011519946.2 | 183 | Intron | XP_011518248.1 | |||
XM_011519947.2 | 183 | Intron | XP_011518249.1 | |||
XM_017017305.1 | 183 | Intron | XP_016872794.1 | |||
XM_017017306.1 | 183 | Intron | XP_016872795.1 | |||
XM_017017307.1 | 183 | Intron | XP_016872796.1 |