Product Details

SNP ID
rs143670067
Assay Type
Functionally tested
NCBI dbSNP Submissions
20
Location
Chr.1:74733339 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCAGTGTTGACGAGGATGTGGTAG[A/C]GCTTGTGCAGTTTCTGAACATGCGA
Phenotype
MIM: 123691 MIM: 611245
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CRYZ PubMed Links

Gene Details

Gene
CRYZ
Gene Name
crystallin zeta
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130042.1 188 UTR 5 NP_001123514.1
NM_001130043.1 188 UTR 5 NP_001123515.1
NM_001134759.1 188 UTR 5 NP_001128231.1
NM_001889.3 188 UTR 5 NP_001880.2
XM_005270491.4 188 Intron XP_005270548.1
XM_011540747.1 188 Intron XP_011539049.1
XM_017000367.1 188 Intron XP_016855856.1
XM_017000368.1 188 Intron XP_016855857.1
Gene
TYW3
Gene Name
tRNA-yW synthesizing protein 3 homolog
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001162916.1 188 Missense Mutation GAG,GCG E32A NP_001156388.1
NM_138467.2 188 Missense Mutation GAG,GCG E32A NP_612476.1
XM_006710347.1 188 Missense Mutation GAG,GCG E32A XP_006710410.1

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