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CCCAAAGGCCGCTGGGTGCTCATAA[A/C]CTGCTGTGCACCCCAGCCACCACCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603926 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C17orf99 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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C17orf99 - chromosome 17 open reading frame 99 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001163075.1 | 209 | Missense Mutation | AAC,ACC | N,T 48 | NP_001156547.1 | |
XM_011524152.2 | 209 | Missense Mutation | AAC,ACC | N,T 52 | XP_011522454.1 | |
XM_017023997.1 | 209 | Missense Mutation | AAC,ACC | N,T 52 | XP_016879486.1 | |
XM_017023998.1 | 209 | Missense Mutation | AAC,ACC | N,T 48 | XP_016879487.1 | |
XM_017023999.1 | 209 | Intron | XP_016879488.1 | |||
XM_017024000.1 | 209 | UTR 5 | XP_016879489.1 | |||
XM_017024001.1 | 209 | UTR 5 | XP_016879490.1 |
SYNGR2 - synaptogyrin 2 | ||||||
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There are no transcripts associated with this gene. |