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CACATCGACCTCTAAACCGGAATTG[A/T]CCTTCAGTTTGCCGTGGTGCTTGAG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 602075 | |||||||||||||||||||||||
Literature Links: |
SATB1 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
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 |
SATB1 - SATB homeobox 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001131010.3 | 2404 | Missense Mutation | GAC,GTC | D,V 708 | NP_001124482.1 | |
NM_001195470.2 | 2404 | Missense Mutation | GAC,GTC | D,V 740 | NP_001182399.1 | |
NM_001322871.1 | 2404 | Missense Mutation | GAC,GTC | D,V 740 | NP_001309800.1 | |
NM_001322872.1 | 2404 | Missense Mutation | GAC,GTC | D,V 708 | NP_001309801.1 | |
NM_001322873.1 | 2404 | Missense Mutation | GAC,GTC | D,V 708 | NP_001309802.1 | |
NM_001322874.1 | 2404 | Missense Mutation | GAC,GTC | D,V 708 | NP_001309803.1 | |
NM_001322875.1 | 2404 | Missense Mutation | GAC,GTC | D,V 708 | NP_001309804.1 | |
NM_001322876.1 | 2404 | Missense Mutation | GAC,GTC | D,V 636 | NP_001309805.1 | |
NM_002971.5 | 2404 | Missense Mutation | GAC,GTC | D,V 708 | NP_002962.1 | |
XM_011533988.2 | 2404 | Missense Mutation | GAC,GTC | D,V 740 | XP_011532290.1 | |
XM_011533989.2 | 2404 | Missense Mutation | GAC,GTC | D,V 740 | XP_011532291.1 | |
XM_011533990.2 | 2404 | Intron | XP_011532292.1 |