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Search Thermo Fisher Scientific
GAGTCTCATTTCATCTGAGAAATGG[C/T]TTCAACTGCATGGGCTTAAGAGCAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 614884 | ||||||||||||||||||||
Literature Links: |
VWA3B 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 |
VWA3B - von Willebrand factor A domain containing 3B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_144992.4 | 347 | Missense Mutation | CTT,TTT | L,F 40 | NP_659429.4 | |
XM_005263897.2 | 347 | Missense Mutation | CTT,TTT | L,F 40 | XP_005263954.1 | |
XM_006712357.2 | 347 | UTR 5 | XP_006712420.1 | |||
XM_006712359.3 | 347 | Intron | XP_006712422.1 | |||
XM_006712360.3 | 347 | Intron | XP_006712423.1 | |||
XM_011510770.1 | 347 | Missense Mutation | CTT,TTT | L,F 40 | XP_011509072.1 | |
XM_011510771.2 | 347 | Missense Mutation | CTT,TTT | L,F 40 | XP_011509073.1 | |
XM_011510772.1 | 347 | Missense Mutation | CTT,TTT | L,F 40 | XP_011509074.1 | |
XM_011510774.1 | 347 | Missense Mutation | CTT,TTT | L,F 40 | XP_011509076.1 | |
XM_011510775.2 | 347 | Missense Mutation | CTT,TTT | L,F 40 | XP_011509077.1 | |
XM_017003560.1 | 347 | Intron | XP_016859049.1 | |||
XM_017003561.1 | 347 | Intron | XP_016859050.1 | |||
XM_017003562.1 | 347 | Intron | XP_016859051.1 | |||
XM_017003563.1 | 347 | Intron | XP_016859052.1 | |||
XM_017003564.1 | 347 | Missense Mutation | CTT,TTT | L,F 40 | XP_016859053.1 |