Product Details

SNP ID
rs201364986
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:74733344 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTGACGAGGATGTGGTAGAGCTT[A/G]TGCAGTTTCTGAACATGCGAGATCA
Phenotype
MIM: 123691 MIM: 611245
Polymorphism
A/G, Transition 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_001130042.1 193 UTR 5 NP_001123514.1
NM_001130043.1 193 UTR 5 NP_001123515.1
NM_001134759.1 193 UTR 5 NP_001128231.1
NM_001889.3 193 UTR 5 NP_001880.2
XM_005270491.4 193 Intron XP_005270548.1
XM_011540747.1 193 Intron XP_011539049.1
XM_017000367.1 193 Intron XP_016855856.1
XM_017000368.1 193 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_001162916.1 193 Missense Mutation ATG,GTG M34V NP_001156388.1
NM_138467.2 193 Missense Mutation ATG,GTG M34V NP_612476.1
XM_006710347.1 193 Missense Mutation ATG,GTG M34V XP_006710410.1

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