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TCTCTGTTGTCCAGACTACCCTTTA[C/G]GTTCACTCTCACTTTCAGGTTGCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601533 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ADAM2 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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ADAM2 - ADAM metallopeptidase domain 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278113.1 | 2150 | Missense Mutation | CCT,CGT | P,R 714 | NP_001265042.1 | |
NM_001278114.1 | 2150 | Missense Mutation | CCT,CGT | P,R 670 | NP_001265043.1 | |
NM_001464.4 | 2150 | Missense Mutation | CCT,CGT | P,R 733 | NP_001455.3 | |
XM_005273468.1 | 2150 | Missense Mutation | CCT,CGT | P,R 703 | XP_005273525.1 | |
XM_011544479.1 | 2150 | Missense Mutation | CCT,CGT | P,R 607 | XP_011542781.1 | |
XM_011544480.1 | 2150 | Missense Mutation | CCT,CGT | P,R 577 | XP_011542782.1 |