Product Details

SNP ID
rs148409091
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:74707138 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCCATGTGACAGAAGACTCAAGT[A/C]TTTACTAAGATTTACATTAGCTAAC
Phenotype
MIM: 123691
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_001130042.1 686 Missense Mutation GAC,TAC D233Y NP_001123514.1
NM_001130043.1 686 Intron NP_001123515.1
NM_001134759.1 686 Missense Mutation GAC,TAC D96Y NP_001128231.1
NM_001889.3 686 Missense Mutation GAC,TAC D233Y NP_001880.2
XM_005270491.4 686 Missense Mutation GAC,TAC D96Y XP_005270548.1
XM_011540747.1 686 Missense Mutation GAC,TAC D233Y XP_011539049.1
XM_017000367.1 686 Intron XP_016855856.1
XM_017000368.1 686 Missense Mutation GAC,TAC D96Y XP_016855857.1

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