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CTGAAGGCCTGGTGAGTCCCCCTCA[C/T]GGCCAGAAGGAGAGACCCGGCTTCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608025 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NBAS 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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NBAS - neuroblastoma amplified sequence | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015909.3 | 6959 | Missense Mutation | ATG,GTG | M,V 2350 | NP_056993.2 | |
XM_011510357.2 | 6959 | Missense Mutation | ATG,GTG | M,V 2307 | XP_011508659.1 | |
XM_011510358.2 | 6959 | Missense Mutation | ATG,GTG | M,V 2307 | XP_011508660.1 | |
XM_011510359.2 | 6959 | Missense Mutation | ATG,GTG | M,V 2137 | XP_011508661.1 | |
XM_011510360.2 | 6959 | Missense Mutation | ATG,GTG | M,V 1617 | XP_011508662.1 | |
XM_011510361.2 | 6959 | Missense Mutation | ATG,GTG | M,V 1614 | XP_011508663.1 | |
XM_017004317.1 | 6959 | Intron | XP_016859806.1 |