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GAGCAGGGTGTCCAGGTCATTCCGC[A/G]TCAGGTCGCTCATCATGTCCTTCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606420 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ELMO1 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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ELMO1 - engulfment and cell motility 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039459.2 | 3819 | Missense Mutation | ACG,ATG | T,M 202 | NP_001034548.1 | |
NM_001206480.2 | 3819 | Missense Mutation | ACG,ATG | T,M 682 | NP_001193409.1 | |
NM_001206482.1 | 3819 | Missense Mutation | ACG,ATG | T,M 682 | NP_001193411.1 | |
NM_014800.10 | 3819 | Missense Mutation | ACG,ATG | T,M 682 | NP_055615.8 | |
NM_130442.3 | 3819 | Missense Mutation | ACG,ATG | T,M 202 | NP_569709.1 | |
XM_005249919.2 | 3819 | Missense Mutation | ACG,ATG | T,M 682 | XP_005249976.1 | |
XM_006715805.1 | 3819 | Missense Mutation | ACG,ATG | T,M 682 | XP_006715868.1 | |
XM_011515654.1 | 3819 | Missense Mutation | ACG,ATG | T,M 682 | XP_011513956.1 | |
XM_017012838.1 | 3819 | Missense Mutation | ACG,ATG | T,M 682 | XP_016868327.1 | |
XM_017012839.1 | 3819 | Missense Mutation | ACG,ATG | T,M 682 | XP_016868328.1 |