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CAACATCTGACAGTGCTTGCAGGAT[C/G]TCTCCTGGACAAATCAATCAGGTAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
17 submissions
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Phenotype: |
MIM: 602704 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MDM4 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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MDM4 - MDM4, p53 regulator | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204171.1 | 222 | Missense Mutation | ATC,ATG | I,M 19 | NP_001191100.1 | |
NM_001204172.1 | 222 | Missense Mutation | ATC,ATG | I,M 19 | NP_001191101.1 | |
NM_001278516.1 | 222 | Missense Mutation | ATC,ATG | I,M 19 | NP_001265445.1 | |
NM_001278517.1 | 222 | Missense Mutation | ATC,ATG | I,M 19 | NP_001265446.1 | |
NM_001278518.1 | 222 | Missense Mutation | ATC,ATG | I,M 19 | NP_001265447.1 | |
NM_001278519.1 | 222 | Missense Mutation | ATC,ATG | I,M 19 | NP_001265448.1 | |
NM_002393.4 | 222 | Missense Mutation | ATC,ATG | I,M 19 | NP_002384.2 | |
XM_017001311.1 | 222 | Missense Mutation | ATC,ATG | I,M 37 | XP_016856800.1 | |
XM_017001312.1 | 222 | Missense Mutation | ATC,ATG | I,M 37 | XP_016856801.1 | |
XM_017001313.1 | 222 | Missense Mutation | ATC,ATG | I,M 37 | XP_016856802.1 |