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Search Thermo Fisher Scientific
GAGTCCACGCACTCACATGGGGTAA[C/T]TGAGCACAACATCCTGTTTGGCAAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603892 | ||||||||||||||||||||
Literature Links: |
EFTUD2 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 |
EFTUD2 - elongation factor Tu GTP binding domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142605.1 | 3304 | Missense Mutation | AAT,AGT | N,S 934 | NP_001136077.1 | |
NM_001258353.1 | 3304 | Missense Mutation | AAT,AGT | N,S 969 | NP_001245282.1 | |
NM_001258354.1 | 3304 | Missense Mutation | AAT,AGT | N,S 959 | NP_001245283.1 | |
NM_004247.3 | 3304 | Missense Mutation | AAT,AGT | N,S 969 | NP_004238.3 |
HIGD1B - HIG1 hypoxia inducible domain family member 1B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271880.1 | 3304 | Intron | NP_001258809.1 | |||
NM_016438.3 | 3304 | Intron | NP_057522.1 | |||
XM_006721946.2 | 3304 | Intron | XP_006722009.1 | |||
XM_006721947.3 | 3304 | Intron | XP_006722010.1 | |||
XM_006721948.3 | 3304 | Intron | XP_006722011.1 | |||
XM_011524891.2 | 3304 | Intron | XP_011523193.1 | |||
XM_017024742.1 | 3304 | Intron | XP_016880231.1 | |||
XM_017024743.1 | 3304 | Intron | XP_016880232.1 |