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CTAGTTGTTTCCTTTTCACTTTTTT[C/T]TTTTTCTACTTTATCTTTTTTCTCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607534 | ||||||||||||||||||||
Literature Links: |
YAF2 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 |
YAF2 - YY1 associated factor 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001190977.2 | 441 | Missense Mutation | AAA,GAA | K,E 43 | NP_001177906.1 | |
NM_001190979.2 | 441 | Missense Mutation | AAA,GAA | K,E 109 | NP_001177908.1 | |
NM_001190980.2 | 441 | Intron | NP_001177909.1 | |||
NM_001320080.1 | 441 | Missense Mutation | AAA,GAA | K,E 76 | NP_001307009.1 | |
NM_005748.5 | 441 | Missense Mutation | AAA,GAA | K,E 85 | NP_005739.2 | |
XM_006719184.3 | 441 | Missense Mutation | AAA,GAA | K,E 87 | XP_006719247.1 | |
XM_006719185.3 | 441 | Missense Mutation | AAA,GAA | K,E 82 | XP_006719248.1 | |
XM_011537728.2 | 441 | Missense Mutation | AAA,GAA | K,E 143 | XP_011536030.1 | |
XM_011537729.2 | 441 | Missense Mutation | AAA,GAA | K,E 64 | XP_011536031.1 | |
XM_017018669.1 | 441 | Missense Mutation | AAA,GAA | K,E 92 | XP_016874158.1 | |
XM_017018670.1 | 441 | Intron | XP_016874159.1 |