Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600540 | ||||||||||||||||||||
Literature Links: |
SP4 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 |
SP4 - Sp4 transcription factor | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001326542.1 | 807 | Missense Mutation | AAG,CAG | K,Q 180 | NP_001313471.1 | |
NM_001326543.1 | 807 | UTR 5 | NP_001313472.1 | |||
NM_003112.4 | 807 | Missense Mutation | AAG,CAG | K,Q 197 | NP_003103.2 | |
XM_005249828.2 | 807 | Missense Mutation | AAG,CAG | K,Q 180 | XP_005249885.1 | |
XM_005249829.3 | 807 | Missense Mutation | AAG,CAG | K,Q 197 | XP_005249886.1 | |
XM_011515486.2 | 807 | Missense Mutation | AAG,CAG | K,Q 197 | XP_011513788.1 | |
XM_011515487.2 | 807 | Missense Mutation | AAG,CAG | K,Q 197 | XP_011513789.1 | |
XM_011515489.2 | 807 | Missense Mutation | AAG,CAG | K,Q 197 | XP_011513791.1 | |
XM_017012557.1 | 807 | Missense Mutation | AAG,CAG | K,Q 197 | XP_016868046.1 |