Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGCTCTGCGGGCACCACTCTGGAC[A/G]GCTTCCTGCGGGCCAAAGTCTTCGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 612420 | ||||||||||||||||||||
Literature Links: |
AFAP1L2 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 |
VWA2 - von Willebrand factor A domain containing 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001272046.1 | 1340 | Missense Mutation | AGC,GGC | S,G 358 | NP_001258975.1 | |
NM_001320804.1 | 1340 | Missense Mutation | AGC,GGC | S,G 358 | NP_001307733.1 | |
XM_011539754.2 | 1340 | Missense Mutation | AGC,GGC | S,G 361 | XP_011538056.1 | |
XM_011539757.2 | 1340 | Missense Mutation | AGC,GGC | S,G 358 | XP_011538059.1 | |
XM_017016177.1 | 1340 | Missense Mutation | AGC,GGC | S,G 368 | XP_016871666.1 | |
XM_017016178.1 | 1340 | Missense Mutation | AGC,GGC | S,G 365 | XP_016871667.1 | |
XM_017016179.1 | 1340 | Missense Mutation | AGC,GGC | S,G 364 | XP_016871668.1 | |
XM_017016180.1 | 1340 | Missense Mutation | AGC,GGC | S,G 54 | XP_016871669.1 | |
XM_017016181.1 | 1340 | Missense Mutation | CAG,CGG | Q,R 369 | XP_016871670.1 |