Product Details

SNP ID
rs144313696
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:74707110 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGAAAAGGAATACTTACTATCACT[C/T]GTCCTCCATGTGACAGAAGACTCAA
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_001130042.1 714 Missense Mutation CAA,CGA Q242R NP_001123514.1
NM_001130043.1 714 Intron NP_001123515.1
NM_001134759.1 714 Missense Mutation CAA,CGA Q105R NP_001128231.1
NM_001889.3 714 Missense Mutation CAA,CGA Q242R NP_001880.2
XM_005270491.4 714 Missense Mutation CAA,CGA Q105R XP_005270548.1
XM_011540747.1 714 Missense Mutation CAA,CGA Q242R XP_011539049.1
XM_017000367.1 714 Intron XP_016855856.1
XM_017000368.1 714 Missense Mutation CAA,CGA Q105R XP_016855857.1

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