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GCCTTTCCTCCATTTTTCCGGAAGA[C/T]TCCTATCTGGGTACAGTATCCAACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 612178 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HENMT1 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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HENMT1 - HEN1 methyltransferase homolog 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001102592.1 | 1103 | Missense Mutation | ATC,GTC | I,V 228 | NP_001096062.1 | |
NM_144584.2 | 1103 | Missense Mutation | ATC,GTC | I,V 228 | NP_653185.2 | |
XM_005270411.1 | 1103 | Missense Mutation | ATC,GTC | I,V 236 | XP_005270468.1 | |
XM_017000179.1 | 1103 | Missense Mutation | ATC,GTC | I,V 72 | XP_016855668.1 |