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TGGTCTCCCGGTCTGACGGTGTTGT[C/T]CACCCCATCTGAGGCACCCAGGGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612667 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HJURP 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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HJURP - Holliday junction recognition protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282962.1 | 2179 | Missense Mutation | AAC,GAC | N,D 651 | NP_001269891.1 | |
NM_001282963.1 | 2179 | Missense Mutation | AAC,GAC | N,D 620 | NP_001269892.1 | |
NM_018410.4 | 2179 | Missense Mutation | AAC,GAC | N,D 705 | NP_060880.3 | |
XM_011511437.1 | 2179 | Missense Mutation | AAC,GAC | N,D 593 | XP_011509739.1 |
MROH2A - maestro heat like repeat family member 2A | ||||||
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There are no transcripts associated with this gene. |