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CTTACATTGTAAGCAGTACTTAATT[C/T]GTGTTTCTCTGGCGCAAGTTTTTAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612820 MIM: 615176 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NPTN 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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NPTN - neuroplastin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001161363.1 | 1376 | Silent Mutation | ACA,ACG | T,T 393 | NP_001154835.1 | |
NM_001161364.1 | 1376 | Silent Mutation | ACA,ACG | T,T 277 | NP_001154836.1 | |
NM_012428.3 | 1376 | Silent Mutation | ACA,ACG | T,T 397 | NP_036560.1 | |
NM_017455.3 | 1376 | Silent Mutation | ACA,ACG | T,T 281 | NP_059429.1 | |
XM_011521452.2 | 1376 | Intron | XP_011519754.1 |
NPTN-IT1 - NPTN intronic transcript 1 | ||||||
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There are no transcripts associated with this gene. |
REC114 - REC114 meiotic recombination protein | ||||||
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There are no transcripts associated with this gene. |