Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAACCATCTTCCTGCACACAGCCAC[G/T]ATTTGCAAAGGTGATGAATGAAGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604585 | ||||||||||||||||||||
Literature Links: |
SP100 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 |
SP100 - SP100 nuclear antigen | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080391.1 | 191 | Missense Mutation | GAT,TAT | D,Y 33 | NP_001073860.1 | |
NM_001206701.1 | 191 | Missense Mutation | GAT,TAT | D,Y 33 | NP_001193630.1 | |
NM_001206702.1 | 191 | Missense Mutation | GAT,TAT | D,Y 33 | NP_001193631.1 | |
NM_001206703.1 | 191 | Intron | NP_001193632.1 | |||
NM_001206704.1 | 191 | UTR 5 | NP_001193633.1 | |||
NM_003113.3 | 191 | Missense Mutation | GAT,TAT | D,Y 33 | NP_003104.2 |