Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTAAAGGATGTTGTCTGCAAAGTAC[A/G]TATCACAGTGCTGGCAGTGGTGCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606238 MIM: 611310 | ||||||||||||||||||||
Literature Links: |
IKZF5 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 |
IKZF5 - IKAROS family zinc finger 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271840.1 | 1911 | Missense Mutation | ACG,ATG | T,M 371 | NP_001258769.1 | |
XM_006717947.3 | 1911 | Missense Mutation | ACG,ATG | T,M 371 | XP_006718010.1 | |
XM_017016550.1 | 1911 | Missense Mutation | ACG,ATG | T,M 371 | XP_016872039.1 | |
XM_017016551.1 | 1911 | Missense Mutation | ACG,ATG | T,M 371 | XP_016872040.1 | |
XM_017016552.1 | 1911 | Missense Mutation | ACG,ATG | T,M 371 | XP_016872041.1 | |
XM_017016553.1 | 1911 | Missense Mutation | ACG,ATG | T,M 303 | XP_016872042.1 | |
XM_017016554.1 | 1911 | Missense Mutation | ACG,ATG | T,M 303 | XP_016872043.1 | |
XM_017016555.1 | 1911 | Missense Mutation | ACG,ATG | T,M 303 | XP_016872044.1 |
PSTK - phosphoseryl-tRNA kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_153336.2 | 1911 | Intron | NP_699167.2 | |||
XM_017015640.1 | 1911 | Intron | XP_016871129.1 | |||
XM_017015641.1 | 1911 | Intron | XP_016871130.1 |