Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGTTCCTATCCCTGAAACAGAACCT[C/T]GTTGAATATTTGCAAGGATAAGCGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601804 | ||||||||||||||||||||
Literature Links: |
SP3 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 |
SP3 - Sp3 transcription factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001017371.4 | 2747 | Missense Mutation | CAA,CGA | Q,R 674 | NP_001017371.3 | |
NM_001172712.1 | 2747 | Missense Mutation | CAA,CGA | Q,R 739 | NP_001166183.1 | |
NM_003111.4 | 2747 | Missense Mutation | CAA,CGA | Q,R 742 | NP_003102.1 |