Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTGGCTTCATCTGCCTCCTGGACTT[C/T]GAGCGGCACCTTGACAGGATAGCCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 192150 MIM: 609693 | ||||||||||||||||||||
Literature Links: |
VARS 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 |
VARS - valyl-tRNA synthetase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006295.2 | 4119 | Missense Mutation | AAA,GAA | K,E 1234 | NP_006286.1 | |
XM_005249362.2 | 4119 | Missense Mutation | AAA,GAA | K,E 1235 | XP_005249419.1 | |
XM_017011246.1 | 4119 | Missense Mutation | AAA,GAA | K,E 652 | XP_016866735.1 | |
XM_017011247.1 | 4119 | Missense Mutation | AAA,GAA | K,E 652 | XP_016866736.1 |
VWA7 - von Willebrand factor A domain containing 7 | ||||||
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There are no transcripts associated with this gene. |