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Search Thermo Fisher Scientific
TGCACAACAAAAAGCTTCACATGAC[C/T]AAGAATATCTTTGTAACATAGGGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 601966 | ||||||||||||||||||||
Literature Links: |
DDI2 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 |
DDI2 - DNA damage inducible 1 homolog 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032341.4 | 715 | UTR 3 | NP_115717.3 |
RSC1A1 - regulatory solute carrier protein, family 1, member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006511.2 | 715 | Nonsense Mutation | CAA,TAA | Q,* 187 | NP_006502.1 |