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TACTTTTGATGTACTACTGTCTTCA[C/G]TGAAACGCCTACTAGAGGGGGCCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601448 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NPAT 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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NPAT - nuclear protein, coactivator of histone transcription | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001321307.1 | 4754 | Missense Mutation | ACT,AGT | T,S 1303 | NP_001308236.1 | |
NM_002519.2 | 4754 | Missense Mutation | ACT,AGT | T,S 1296 | NP_002510.2 | |
XM_011542854.2 | 4754 | Missense Mutation | ACT,AGT | T,S 1305 | XP_011541156.1 | |
XM_017017802.1 | 4754 | Missense Mutation | ACT,AGT | T,S 1237 | XP_016873291.1 | |
XM_017017803.1 | 4754 | Missense Mutation | ACT,AGT | T,S 1237 | XP_016873292.1 |