Product Details

SNP ID
rs140515221
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:26608021 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTGGACTGCTCAAAGGCGACCCA[A/G]CTGGATACAAGAAGGACCATGAGGC
Phenotype
MIM: 123631 MIM: 600929
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CRYBA4 PubMed Links

Gene Details

Gene
CRYBA4
Gene Name
crystallin beta A4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001886.2 40 Intron NP_001877.1
XM_006724140.3 40 UTR 5 XP_006724203.1
XM_017028598.1 40 Intron XP_016884087.1
Gene
CRYBB1
Gene Name
crystallin beta B1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001887.3 40 Silent Mutation CCC,CCT P100P NP_001878.1
XM_011529899.2 40 Silent Mutation CCC,CCT P100P XP_011528201.1

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