Product Details

SNP ID

rs147994059

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:29250258 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTCCTGTCCAAATGTCTCTGAGC[A/G]CAGTTTTGATAATGTCCGGTCCCTG

Phenotype

MIM: 123610 MIM: 609356

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CRYBA1 PubMed Links

Gene Details

Gene

CRYBA1

Gene Name

crystallin beta A1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005208.4	180	Missense Mutation	CAC,CGC	H58R	NP_005199.2
XM_017024198.1	180	Missense Mutation	CAC,CGC	H159R	XP_016879687.1

Gene

NUFIP2

Gene Name

NUFIP2, FMR1 interacting protein 2

There are no transcripts associated with this gene.

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