Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGGTGCCGCCATCCCGAGTCGCGC[C/T]GCACGGCCGGGGCCCAGGCCTGCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613814 MIM: 614535 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TTC19 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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TTC19 - tetratricopeptide repeat domain 19 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001271420.1 | 615 | UTR 5 | NP_001258349.1 | |||
NM_017775.3 | 615 | Missense Mutation | CCG,CTG | P,L 49 | NP_060245.3 | |
XM_017024801.1 | 615 | Missense Mutation | CCG,CTG | P,L 170 | XP_016880290.1 | |
XM_017024802.1 | 615 | Missense Mutation | CCG,CTG | P,L 170 | XP_016880291.1 |
ZSWIM7 - zinc finger SWIM-type containing 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042697.1 | 615 | Intron | NP_001036162.1 | |||
NM_001042698.1 | 615 | Intron | NP_001036163.1 |