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GCTCTGGATCTAGGTCTGGATAGCT[A/C]CTTTTCCATAAGTGGTACATGACAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609233 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NUDT13 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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NUDT13 - nudix hydrolase 13 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001283014.1 | 618 | Missense Mutation | TAC,TCC | Y,S 115 | NP_001269943.1 | |
NM_001283015.1 | 618 | Missense Mutation | TAC,TCC | Y,S 115 | NP_001269944.1 | |
NM_001283016.1 | 618 | UTR 5 | NP_001269945.1 | |||
NM_001283017.1 | 618 | UTR 5 | NP_001269946.1 | |||
NM_001283019.1 | 618 | UTR 5 | NP_001269948.1 | |||
NM_015901.5 | 618 | Missense Mutation | TAC,TCC | Y,S 115 | NP_056985.3 | |
XM_017016033.1 | 618 | Missense Mutation | TAC,TCC | Y,S 115 | XP_016871522.1 |