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GGGTGAGGCTGCCCAGGATGCGGTG[A/C]GTGCTTCTGCCCAGCGCATGGGTGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 611901 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LOC102724312 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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LOC102724312 - uncharacterized LOC102724312 | ||||||
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There are no transcripts associated with this gene. |
LOC107985729 - uncharacterized LOC107985729 | ||||||
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There are no transcripts associated with this gene. |
TMEM88B - transmembrane protein 88B | ||||||
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There are no transcripts associated with this gene. |
VWA1 - von Willebrand factor A domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022834.4 | 530 | Missense Mutation | AGT,CGT | S,R 102 | NP_073745.2 | |
NM_199121.2 | 530 | Intron | NP_954572.2 |