Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCCCTCTCACCCAGGACAACAGCC[A/C]AACATCCAATAGCCTGGAGGGGGGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 612277 | ||||||||||||||||||||
Literature Links: |
ADAMTSL2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
ADAMTSL2 - ADAMTS like 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145320.1 | 316 | Missense Mutation | CAA,CCA | Q,P 34 | NP_001138792.1 | |
NM_014694.3 | 316 | Missense Mutation | CAA,CCA | Q,P 34 | NP_055509.2 | |
XM_005272237.3 | 316 | Missense Mutation | CAA,CCA | Q,P 143 | XP_005272294.1 | |
XM_005272238.3 | 316 | Intron | XP_005272295.1 | |||
XM_005272239.2 | 316 | Missense Mutation | CAA,CCA | Q,P 34 | XP_005272296.1 | |
XM_011519241.2 | 316 | Intron | XP_011517543.2 | |||
XM_011519242.2 | 316 | Intron | XP_011517544.1 |