Product Details

SNP ID

rs199794131

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:208160979 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGAGGGAATAGATCTCAGGGAGA[C/T]GGAACAGTTCTGGAACACAGGCGCA

Phenotype

MIM: 615536 MIM: 123660

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C2orf80 PubMed Links

Gene Details

Gene

C2orf80

Gene Name

chromosome 2 open reading frame 80

There are no transcripts associated with this gene.

Gene

CRYGA

Gene Name

crystallin gamma A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014617.3	367	Missense Mutation	CAT,CGT	H117R	NP_055432.2

Gene

LOC100507443

Gene Name

uncharacterized LOC100507443

There are no transcripts associated with this gene.

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