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CTCGGCAGTCACCCCTGGACATTTT[A/G]TCACCCGGAGGCTGCAACTTGGTCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
LETMD1 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
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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LETMD1 - LETM1 domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001243689.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | NP_001230618.1 | |
NM_001300765.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | NP_001287694.1 | |
NM_015416.4 | 128 | Missense Mutation | ATC,GTC | I,V 24 | NP_056231.3 | |
XM_006719335.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_006719398.1 | |
XM_006719336.1 | 128 | Intron | XP_006719399.1 | |||
XM_006719339.1 | 128 | UTR 5 | XP_006719402.1 | |||
XM_006719340.1 | 128 | Intron | XP_006719403.1 | |||
XM_011538161.2 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_011536463.1 | |
XM_011538162.2 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_011536464.1 | |
XM_011538163.2 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_011536465.1 | |
XM_011538164.2 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_011536466.1 | |
XM_011538165.2 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_011536467.1 | |
XM_011538167.1 | 128 | Missense Mutation | TAT,TGT | Y,C 61 | XP_011536469.1 | |
XM_017019151.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_016874640.1 | |
XM_017019152.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_016874641.1 | |
XM_017019153.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_016874642.1 | |
XM_017019154.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_016874643.1 | |
XM_017019155.1 | 128 | Intron | XP_016874644.1 | |||
XM_017019156.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_016874645.1 | |
XM_017019157.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_016874646.1 | |
XM_017019158.1 | 128 | Intron | XP_016874647.1 | |||
XM_017019159.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_016874648.1 | |
XM_017019160.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_016874649.1 | |
XM_017019161.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_016874650.1 | |
XM_017019162.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_016874651.1 | |
XM_017019163.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_016874652.1 | |
XM_017019164.1 | 128 | UTR 5 | XP_016874653.1 | |||
XM_017019165.1 | 128 | UTR 5 | XP_016874654.1 | |||
XM_017019166.1 | 128 | Intron | XP_016874655.1 | |||
XM_017019167.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_016874656.1 | |
XM_017019168.1 | 128 | Missense Mutation | ATC,GTC | I,V 24 | XP_016874657.1 |