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TGACTATTTTATGGTAGGGGAGAAG[C/G]TTGAGTGTTGTTGTGAAAGCCCTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 602651 MIM: 606737 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NRDC 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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NRDC - nardilysin convertase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001101662.1 | 3748 | Missense Mutation | AAC,AAG | N,K 1142 | NP_001095132.1 | |
NM_001242361.1 | 3748 | Missense Mutation | AAC,AAG | N,K 1078 | NP_001229290.1 | |
NM_002525.2 | 3748 | Missense Mutation | AAC,AAG | N,K 1210 | NP_002516.2 | |
XM_005270903.1 | 3748 | Missense Mutation | AAC,AAG | N,K 905 | XP_005270960.1 | |
XM_011541522.1 | 3748 | Missense Mutation | AAC,AAG | N,K 1100 | XP_011539824.1 | |
XM_011541523.1 | 3748 | Missense Mutation | AAC,AAG | N,K 1010 | XP_011539825.1 | |
XM_011541525.2 | 3748 | Missense Mutation | AAC,AAG | N,K 905 | XP_011539827.1 | |
XM_017001375.1 | 3748 | Missense Mutation | AAC,AAG | N,K 1010 | XP_016856864.1 |