Product Details

SNP ID
rs200271348
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:15999557 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCACCGCCGCCGCCATCTCGCTC[A/G]GGAGCTCCTCCACAACCGCCGGCAA
Phenotype
MIM: 613814 MIM: 614535
Polymorphism
A/G, Transition 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_001271420.1 136 UTR 5 NP_001258349.1
NM_017775.3 136 UTR 5 NP_060245.3
XM_017024801.1 136 Silent Mutation TCA,TCG S24S XP_016880290.1
XM_017024802.1 136 Silent Mutation TCA,TCG S24S 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_001042697.1 136 Missense Mutation CCG,CTG P13L NP_001036162.1
NM_001042698.1 136 Missense Mutation CCG,CTG P13L NP_001036163.1

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