Product Details

SNP ID
rs781647443
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:15999875 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTCCGGCTCCTGAGCTGGAGCCT[G/C]GGCCGAGGCTTCCTGCGGGCCGCGG
Phenotype
MIM: 613814 MIM: 614535
Polymorphism
G/C, Transversion substitution
Allele Nomenclature
Literature Links
TTC19 PubMed Links

Gene Details

Gene
TTC19
Gene Name
tetratricopeptide repeat domain 19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271420.1 496 UTR 5 NP_001258349.1
NM_017775.3 496 Silent Mutation CTC,CTG L9L NP_060245.3
XM_017024801.1 496 Silent Mutation CTC,CTG L130L XP_016880290.1
XM_017024802.1 496 Silent Mutation CTC,CTG L130L XP_016880291.1
Gene
ZSWIM7
Gene Name
zinc finger SWIM-type containing 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042697.1 496 Intron NP_001036162.1
NM_001042698.1 496 Intron NP_001036163.1

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