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GTTGTACTGCAGCCGGAGGTTCTCG[A/G]CGGTGAAGAGTTCGGGAAACAGGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616374 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BEND3 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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BEND3 - BEN domain containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080450.2 | 2911 | Missense Mutation | GCC,GTC | A,V 754 | NP_001073919.1 | |
XM_005267079.3 | 2911 | Intron | XP_005267136.1 | |||
XM_005267080.3 | 2911 | Missense Mutation | GCC,GTC | A,V 754 | XP_005267137.1 | |
XM_011536005.2 | 2911 | Intron | XP_011534307.1 | |||
XM_017011138.1 | 2911 | Missense Mutation | GCC,GTC | A,V 754 | XP_016866627.1 |