Product Details

SNP ID
rs149492778
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:111913680 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCCAGCGCCTGGACCGCCACGGC[A/T]TCGTGTCCCGAGAGTTCTGCCGCAC
Phenotype
MIM: 123590 MIM: 602179
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
C11orf52 PubMed Links

Gene Details

Gene
C11orf52
Gene Name
chromosome 11 open reading frame 52
There are no transcripts associated with this gene.

Gene
CRYAB
Gene Name
crystallin alpha B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001289807.1 428 Intron NP_001276736.1
NM_001289808.1 428 Intron NP_001276737.1
NM_001885.2 428 Intron NP_001876.1
XM_011542608.1 428 Intron XP_011540910.1
XM_011542609.2 428 Intron XP_011540911.1
Gene
HSPB2
Gene Name
heat shock protein family B (small) member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001541.3 428 Missense Mutation ATC,TTC I112F NP_001532.1
Gene
HSPB2-C11orf52
Gene Name
HSPB2-C11orf52 readthrough (NMD candidate)
There are no transcripts associated with this gene.

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