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ACCTTGTCGTCCTCCACCACACACT[C/G]AATCTGTAGCTTCCGGATACCGTAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 130592 MIM: 611552 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EEF1D 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) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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EEF1D - eukaryotic translation elongation factor 1 delta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001317743.1 | 996 | Missense Mutation | NP_001304672.1 | |||
XM_005250820.3 | 996 | Missense Mutation | CAG,GAG | Q,E 653 | XP_005250877.1 | |
XM_005250823.1 | 996 | Intron | XP_005250880.1 | |||
XM_006716519.3 | 996 | Missense Mutation | CAG,GAG | Q,E 652 | XP_006716582.1 | |
XM_006716520.3 | 996 | Missense Mutation | CAG,GAG | Q,E 629 | XP_006716583.1 | |
XM_006716522.1 | 996 | Missense Mutation | CAG,GAG | Q,E 612 | XP_006716585.1 | |
XM_006716523.1 | 996 | Missense Mutation | CAG,GAG | Q,E 612 | XP_006716586.1 | |
XM_006716524.1 | 996 | Missense Mutation | CAG,GAG | Q,E 612 | XP_006716587.1 | |
XM_006716525.1 | 996 | Missense Mutation | CAG,GAG | Q,E 246 | XP_006716588.1 | |
XM_011516905.2 | 996 | Intron | XP_011515207.1 | |||
XM_011516906.2 | 996 | Intron | XP_011515208.1 | |||
XM_017013168.1 | 996 | Intron | XP_016868657.1 | |||
XM_017013169.1 | 996 | Intron | XP_016868658.1 | |||
XM_017013170.1 | 996 | Intron | XP_016868659.1 | |||
XM_017013171.1 | 996 | Intron | XP_016868660.1 | |||
XM_017013172.1 | 996 | Missense Mutation | CAG,GAG | Q,E 588 | XP_016868661.1 | |
XM_017013173.1 | 996 | Intron | XP_016868662.1 |
MROH6 - maestro heat like repeat family member 6 | ||||||
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There are no transcripts associated with this gene. |
NAPRT - nicotinate phosphoribosyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286829.1 | 996 | Intron | NP_001273758.1 | |||
NM_145201.5 | 996 | Intron | NP_660202.3 | |||
XM_017013975.1 | 996 | Intron | XP_016869464.1 | |||
XM_017013976.1 | 996 | Intron | XP_016869465.1 | |||
XM_017013977.1 | 996 | Intron | XP_016869466.1 | |||
XM_017013978.1 | 996 | Intron | XP_016869467.1 | |||
XM_017013979.1 | 996 | Intron | XP_016869468.1 | |||
XM_017013980.1 | 996 | Intron | XP_016869469.1 |