Product Details

SNP ID

rs200129430

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:218992167 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTGGCTGCTGCTGCCACTCCAGG[C/T]GCTCCAGCGAGGATAGTCTCCCTTC

Phenotype

MIM: 600836 MIM: 607150 MIM: 611173

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CRYBA2 PubMed Links

Gene Details

Gene

CRYBA2

Gene Name

crystallin beta A2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_057093.1	273	Missense Mutation	ACC,GCC	T80A	NP_476434.1
NM_057094.1	273	Missense Mutation	ACC,GCC	T80A	NP_476435.1

Gene

FEV

Gene Name

FEV, ETS transcription factor

There are no transcripts associated with this gene.

Gene

MIR375

Gene Name

microRNA 375

There are no transcripts associated with this gene.

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