Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AATGGGCATCTCTCTGATAGGCCCC[G/T]GTGACTCGCAGCCCTGCCAGAATGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 612420 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AFAP1L2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
VWA2 - von Willebrand factor A domain containing 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001272046.1 | 1163 | Missense Mutation | GGT,TGT | G,C 299 | NP_001258975.1 | |
NM_001320804.1 | 1163 | Missense Mutation | GGT,TGT | G,C 299 | NP_001307733.1 | |
XM_011539754.2 | 1163 | Missense Mutation | GGT,TGT | G,C 302 | XP_011538056.1 | |
XM_011539757.2 | 1163 | Missense Mutation | GGT,TGT | G,C 299 | XP_011538059.1 | |
XM_017016177.1 | 1163 | Missense Mutation | GGT,TGT | G,C 309 | XP_016871666.1 | |
XM_017016178.1 | 1163 | Missense Mutation | GGT,TGT | G,C 306 | XP_016871667.1 | |
XM_017016179.1 | 1163 | Missense Mutation | GGT,TGT | G,C 305 | XP_016871668.1 | |
XM_017016180.1 | 1163 | UTR 5 | XP_016871669.1 | |||
XM_017016181.1 | 1163 | Missense Mutation | GGT,TGT | G,C 309 | XP_016871670.1 |