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AGTCCCTGGGTGACAAGCATGCTTA[C/T]AAGAGAAAAAGGCAGAGCTGTAAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
OCIAD2 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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OCIAD2 - OCIA domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001014446.2 | 437 | Missense Mutation | ATA,GTA | I,V 61 | NP_001014446.1 | |
NM_001286773.1 | 437 | Missense Mutation | ATA,GTA | I,V 61 | NP_001273702.1 | |
NM_001286774.1 | 437 | UTR 5 | NP_001273703.1 | |||
NM_152398.3 | 437 | Missense Mutation | ATA,GTA | I,V 61 | NP_689611.1 |