Product Details

SNP ID

rs143500486

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:111908776 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGAAAGGGCATCTATTTCTTGGG[G/T]GCTGCGGTGACAGCAGGCTTCTCTT

Phenotype

MIM: 123590 MIM: 602179

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CRYAB PubMed Links

Gene Details

Gene

CRYAB

Gene Name

crystallin alpha B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001289807.1	823	Silent Mutation	GCA,GCC	A172A	NP_001276736.1
NM_001289808.1	823	Silent Mutation	GCA,GCC	A172A	NP_001276737.1
NM_001885.2	823	Silent Mutation	GCA,GCC	A172A	NP_001876.1
XM_011542608.1	823	Silent Mutation	GCA,GCC	A172A	XP_011540910.1
XM_011542609.2	823	Silent Mutation	GCA,GCC	A105A	XP_011540911.1

Gene

HSPB2

Gene Name

heat shock protein family B (small) member 2

There are no transcripts associated with this gene.

Gene

HSPB2-C11orf52

Gene Name

HSPB2-C11orf52 readthrough (NMD candidate)

There are no transcripts associated with this gene.

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