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GATTCTACTTTTTGAGCTAAAATTC[A/C]ATTTTTCTGTTTTGCAAGGCAAACC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614029 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SPDYA PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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SPDYA - speedy/RINGO cell cycle regulator family member A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001008779.1 | 945 | Intron | NP_001008779.1 | |||
NM_001142634.1 | 945 | Intron | NP_001136106.1 | |||
NM_182756.3 | 945 | Intron | NP_877433.2 |
TRMT61B - tRNA methyltransferase 61B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017910.3 | 945 | Nonsense Mutation | GGA,TGA | G,* 403 | NP_060380.3 | |
XM_005264393.2 | 945 | Nonsense Mutation | GGA,TGA | G,* 403 | XP_005264450.1 | |
XM_006712037.2 | 945 | Nonsense Mutation | GGA,TGA | G,* 305 | XP_006712100.1 | |
XM_017004401.1 | 945 | Nonsense Mutation | GGA,TGA | G,* 305 | XP_016859890.1 | |
XM_017004402.1 | 945 | Intron | XP_016859891.1 | |||
XM_017004403.1 | 945 | Nonsense Mutation | GGA,TGA | G,* 167 | XP_016859892.1 |