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TTCATCGATGAGGAACTGGAGAAGA[C/T]GGATTGTGTACAGCAACGCAAGAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
13 submissions
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Phenotype: |
MIM: 604396 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SETDB1 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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SETDB1 - SET domain bifurcated 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145415.1 | 342 | Missense Mutation | ACG,ATG | T,M 51 | NP_001138887.1 | |
NM_001243491.1 | 342 | Missense Mutation | ACG,ATG | T,M 51 | NP_001230420.1 | |
NM_012432.3 | 342 | Missense Mutation | ACG,ATG | T,M 51 | NP_036564.3 | |
XM_005245641.3 | 342 | Missense Mutation | ACG,ATG | T,M 51 | XP_005245698.1 | |
XM_017002953.1 | 342 | Missense Mutation | ACG,ATG | T,M 51 | XP_016858442.1 | |
XM_017002954.1 | 342 | Missense Mutation | ACG,ATG | T,M 51 | XP_016858443.1 | |
XM_017002955.1 | 342 | Missense Mutation | ACG,ATG | T,M 51 | XP_016858444.1 |