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ATCTTAAATATGAAATCAATATACT[C/T]ATCGCTTGAATAGTCCTCAGTTCTC
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 |
---|---|---|
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 |
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 | 2125 | Missense Mutation | AAG,GAG | K,E 706 | NP_001265042.1 | |
NM_001278114.1 | 2125 | Missense Mutation | AAG,GAG | K,E 662 | NP_001265043.1 | |
NM_001464.4 | 2125 | Missense Mutation | AAG,GAG | K,E 725 | NP_001455.3 | |
XM_005273468.1 | 2125 | Missense Mutation | AAG,GAG | K,E 695 | XP_005273525.1 | |
XM_011544479.1 | 2125 | Missense Mutation | AAG,GAG | K,E 599 | XP_011542781.1 | |
XM_011544480.1 | 2125 | Missense Mutation | AAG,GAG | K,E 569 | XP_011542782.1 |