Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGCGGCACTGGCCTACTACAGGGAC[A/G]CTGAGGCCTACAGACACTCCCCAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 305371 | ||||||||||||||||||||
Literature Links: |
GATA1 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 |
GATA1 - GATA binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002049.3 | 321 | Missense Mutation | ACT,GCT | T,A 66 | NP_002040.1 | |
XM_011543897.2 | 321 | Missense Mutation | ACT,GCT | T,A 66 | XP_011542199.1 | |
XM_011543898.2 | 321 | Intron | XP_011542200.1 |