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TTGTAGAGTTCATGCAGGGCCACTC[A/G]CGCCCCGAGGTCTCCGGAGTAGTTC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 601053 | |||||||||||||||||||||||
Literature Links: |
PLXNB1 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
PLXNB1 - plexin B1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130082.2 | 9941 | Nonsense Mutation | CGA,TGA | R,* 2085 | NP_001123554.1 | |
NM_002673.5 | 9941 | Nonsense Mutation | CGA,TGA | R,* 2085 | NP_002664.2 | |
XM_011533833.2 | 9941 | Nonsense Mutation | CGA,TGA | R,* 2086 | XP_011532135.1 | |
XM_011533834.1 | 9941 | Nonsense Mutation | CGA,TGA | R,* 2086 | XP_011532136.1 | |
XM_011533835.1 | 9941 | Nonsense Mutation | CGA,TGA | R,* 2086 | XP_011532137.1 | |
XM_011533836.1 | 9941 | Nonsense Mutation | CGA,TGA | R,* 2086 | XP_011532138.1 | |
XM_011533837.2 | 9941 | Nonsense Mutation | CGA,TGA | R,* 2086 | XP_011532139.1 | |
XM_017006630.1 | 9941 | Nonsense Mutation | CGA,TGA | R,* 2086 | XP_016862119.1 | |
XM_017006631.1 | 9941 | Nonsense Mutation | CGA,TGA | R,* 2085 | XP_016862120.1 |