Search Thermo Fisher Scientific
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GGAACAGACAAGGGAAGTGGCTGGG[C/G]AGGCAGTGCCCCAGTGGTGGTGGCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600276 | ||||||||||||||||||||
Literature Links: |
NOTCH3 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 |
NOTCH3 - notch 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000435.2 | 6724 | Missense Mutation | CCC,GCC | P,A 2289 | NP_000426.2 | |
XM_005259924.4 | 6724 | Missense Mutation | CCC,GCC | P,A 2237 | XP_005259981.1 |