Product Details

SNP ID
rs149746412
Assay Type
Functionally tested
NCBI dbSNP Submissions
19
Location
Chr.1:74706358 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATGAATGATATTTTCATGAGCCT[C/T]GGCCACCTTCTCCAATGGATATTGA
Phenotype
MIM: 123691
Polymorphism
C/T, 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_001130042.1 917 Missense Mutation AAG,GAG K310E NP_001123514.1
NM_001130043.1 917 Missense Mutation AAG,GAG K276E NP_001123515.1
NM_001134759.1 917 Missense Mutation AAG,GAG K173E NP_001128231.1
NM_001889.3 917 Missense Mutation AAG,GAG K310E NP_001880.2
XM_005270491.4 917 Missense Mutation AAG,GAG K173E XP_005270548.1
XM_011540747.1 917 Missense Mutation AAG,GAG K310E XP_011539049.1
XM_017000367.1 917 Missense Mutation AAG,GAG K276E XP_016855856.1
XM_017000368.1 917 Missense Mutation AAG,GAG K173E XP_016855857.1

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