Product Details

SNP ID

rs74315488

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:26599591 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTGCATCTGTGGCTGGAAGGCTC[A/C]CCACTCATTCCAGTGCCGGAAGTCA

Phenotype

MIM: 123631 MIM: 600929 MIM: 603126

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CRYBA4 PubMed Links

Gene Details

Gene

CRYBA4

Gene Name

crystallin beta A4

There are no transcripts associated with this gene.

Gene

CRYBB1

Gene Name

crystallin beta B1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001887.3	728	Nonsense Mutation	GGA,TGA	G220*	NP_001878.1
XM_011529899.2	728	Nonsense Mutation	GGA,TGA	G220*	XP_011528201.1

Gene

TPST2

Gene Name

tyrosylprotein sulfotransferase 2

There are no transcripts associated with this gene.

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