Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAGCTTCAGCTCTCTCAAGAGGAAG[C/T]AACCCAAGACGTTCACCGTGAGGAT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607379 | ||||||||||||||||||||
Literature Links: |
NF2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | 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 |
NF2 - neurofibromin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000268.3 | 495 | Nonsense Mutation | CAA,TAA | Q,* 18 | NP_000259.1 | |
NM_016418.5 | 495 | Nonsense Mutation | CAA,TAA | Q,* 18 | NP_057502.2 | |
NM_181825.2 | 495 | Nonsense Mutation | CAA,TAA | Q,* 18 | NP_861546.1 | |
NM_181828.2 | 495 | Nonsense Mutation | CAA,TAA | Q,* 18 | NP_861966.1 | |
NM_181829.2 | 495 | Nonsense Mutation | CAA,TAA | Q,* 18 | NP_861967.1 | |
NM_181830.2 | 495 | Nonsense Mutation | CAA,TAA | Q,* 18 | NP_861968.1 | |
NM_181831.2 | 495 | Nonsense Mutation | CAA,TAA | Q,* 18 | NP_861969.1 | |
NM_181832.2 | 495 | Nonsense Mutation | CAA,TAA | Q,* 18 | NP_861970.1 | |
NM_181833.2 | 495 | Nonsense Mutation | CAA,TAA | Q,* 18 | NP_861971.1 |