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ATGTGCAATACCAACATGTCTGTAC[C/T]TACTGATGGTGCTGTAACCACCTCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 164785 | ||||||||||||||||||||
Literature Links: |
LOC100130075 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 |
LOC100130075 - SUZ RNA binding domain containing 1 pseudogene | ||||||
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There are no transcripts associated with this gene. |
MDM2 - MDM2 proto-oncogene | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145337.2 | 278 | Missense Mutation | CCT,CTT | P,L 9 | NP_001138809.1 | |
NM_001145339.2 | 278 | Missense Mutation | CCT,CTT | P,L 15 | NP_001138811.1 | |
NM_001145340.2 | 278 | Missense Mutation | CCT,CTT | P,L 9 | NP_001138812.1 | |
NM_001278462.1 | 278 | Missense Mutation | CCT,CTT | P,L 9 | NP_001265391.1 | |
NM_002392.5 | 278 | Missense Mutation | CCT,CTT | P,L 15 | NP_002383.2 | |
XM_005268872.4 | 278 | Missense Mutation | CCT,CTT | P,L 9 | XP_005268929.1 | |
XM_006719399.3 | 278 | Intron | XP_006719462.1 | |||
XM_006719400.3 | 278 | UTR 5 | XP_006719463.1 |