Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTGACCTTCAGATCTAAGAAGTCTC[C/T]GGAGCTTGCTTCAGAGGAGTTCCTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
HN1 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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HN1 - hematological and neurological expressed 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001002032.2 | 563 | Missense Mutation | AGA,GGA | R,G 93 | NP_001002032.1 | |
NM_001002033.2 | 563 | Missense Mutation | AGA,GGA | R,G 47 | NP_001002033.1 | |
NM_001288609.1 | 563 | Missense Mutation | AGA,GGA | R,G 47 | NP_001275538.1 | |
NM_001288610.1 | 563 | Missense Mutation | AGA,GGA | R,G 47 | NP_001275539.1 | |
NM_001288611.1 | 563 | Missense Mutation | AGA,GGA | R,G 93 | NP_001275540.1 | |
NM_016185.3 | 563 | Missense Mutation | AGA,GGA | R,G 93 | NP_057269.1 |