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CTTTTTTCGATTTTGGATGAAATGG[C/G]TATTACGACAGATGACTGGGAAGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610196 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ELMOD2 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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ELMOD2 - ELMO domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_153702.3 | 550 | Silent Mutation | CTA,GTA | L,V 21 | NP_714913.1 | |
XM_005262885.3 | 550 | Missense Mutation | CTA,GTA | L,V 33 | XP_005262942.1 | |
XM_005262886.2 | 550 | Silent Mutation | CTA,GTA | L,V 21 | XP_005262943.1 | |
XM_011531818.2 | 550 | Missense Mutation | CTA,GTA | L,V 33 | XP_011530120.1 | |
XM_011531819.2 | 550 | Missense Mutation | CTA,GTA | L,V 21 | XP_011530121.1 |