Product Details

SNP ID
rs201075706
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:20404646 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGAAGTTACATACCTGGTTAACCT[C/T]CTCAGCAGTGGCCCTGGAAAACTCT
Phenotype
MIM: 609877
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CRYL1 PubMed Links

Gene Details

Gene
CRYL1
Gene Name
crystallin lambda 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015974.2 741 Missense Mutation AAG,GAG K279E NP_057058.2
XM_005266415.3 741 Missense Mutation AAG,GAG K225E XP_005266472.1
XM_005266416.4 741 Intron XP_005266473.1
XM_017020624.1 741 Missense Mutation AAG,GAG K194E XP_016876113.1

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