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GTGAAAGGGTTGAGGGGCCGGCTCA[C/G]GATAGCCGACTCCTTCTCCAGGAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616759 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NOSIP 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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NOSIP - nitric oxide synthase interacting protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270960.1 | 499 | Missense Mutation | CTG,GTG | L,V 122 | NP_001257889.1 | |
NM_015953.4 | 499 | Missense Mutation | CTG,GTG | L,V 122 | NP_057037.1 | |
XM_005258964.4 | 499 | Missense Mutation | CTG,GTG | L,V 122 | XP_005259021.1 | |
XM_006723235.3 | 499 | Missense Mutation | CTG,GTG | L,V 122 | XP_006723298.1 | |
XM_011527015.2 | 499 | Missense Mutation | CTG,GTG | L,V 123 | XP_011525317.1 | |
XM_011527017.2 | 499 | Missense Mutation | CTG,GTG | L,V 123 | XP_011525319.1 | |
XM_017026851.1 | 499 | Missense Mutation | CTG,GTG | L,V 122 | XP_016882340.1 | |
XM_017026852.1 | 499 | Missense Mutation | CTG,GTG | L,V 122 | XP_016882341.1 |