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TGGTTATAAACAGCTGTATTTGGAT[A/G]TAGAAAGTGTGAGGAAAAGGCCATA
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 |
---|---|---|
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 |
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 | 823 | Missense Mutation | ATA,GTA | I,V 112 | NP_714913.1 | |
XM_005262885.3 | 823 | Missense Mutation | ATA,GTA | I,V 124 | XP_005262942.1 | |
XM_005262886.2 | 823 | Missense Mutation | ATA,GTA | I,V 112 | XP_005262943.1 | |
XM_011531818.2 | 823 | Missense Mutation | ATA,GTA | I,V 124 | XP_011530120.1 | |
XM_011531819.2 | 823 | Missense Mutation | ATA,GTA | I,V 112 | XP_011530121.1 |