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TCTTCTCACATTTGACTCCAGAGTA[C/T]TCAGTGCGGCAGGAACACACATTGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
VWDE PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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VWDE - von Willebrand factor D and EGF domains | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135924.1 | 5235 | Silent Mutation | GAA,GAG | E,E 1575 | NP_001129396.1 | |
XM_005249641.1 | 5235 | Silent Mutation | GAA,GAG | E,E 1029 | XP_005249698.1 | |
XM_011515174.1 | 5235 | Silent Mutation | GAA,GAG | E,E 1695 | XP_011513476.1 | |
XM_011515175.1 | 5235 | Silent Mutation | GAA,GAG | E,E 1649 | XP_011513477.1 | |
XM_017011828.1 | 5235 | Silent Mutation | GAA,GAG | E,E 1460 | XP_016867317.1 | |
XM_017011829.1 | 5235 | Silent Mutation | GAA,GAG | E,E 1305 | XP_016867318.1 | |
XM_017011830.1 | 5235 | Intron | XP_016867319.1 |