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CAGTCAGCATCTCACCAAGATGCAG[A/G]CCTGTGCCTCAATGCCACAGAGCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612928 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ISOC2 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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ISOC2 - isochorismatase domain containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001136201.1 | 512 | Missense Mutation | GCC,GTC | A,V 113 | NP_001129673.1 | |
NM_001136202.1 | 512 | Intron | NP_001129674.1 | |||
NM_024710.2 | 512 | Missense Mutation | GCC,GTC | A,V 113 | NP_078986.1 |