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TGCCTGCAGGGCTGAGTAGTGGCTC[C/T]GGCATTGCCCAGCATAGAAGTACAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
12 submissions
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Phenotype: |
MIM: 609906 MIM: 611461 | ||||||||||||||||||||
Literature Links: |
EFS 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 |
EFS - embryonal Fyn-associated substrate | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001277174.1 | 1432 | Missense Mutation | CAG,CGG | Q,R 275 | NP_001264103.1 | |
NM_005864.3 | 1432 | Missense Mutation | CAG,CGG | Q,R 444 | NP_005855.1 | |
NM_032459.2 | 1432 | Missense Mutation | CAG,CGG | Q,R 351 | NP_115835.1 | |
XM_005267256.1 | 1432 | Missense Mutation | CAG,CGG | Q,R 414 | XP_005267313.1 |
SLC22A17 - solute carrier family 22 member 17 | ||||||
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There are no transcripts associated with this gene. |