Product Details

SNP ID

rs2241980

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:208142897 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCATCTCTGTCGTAGATCTTCATT[C/G]TGTAAGCGCCAGAGTGCTGGAGTGG

Phenotype

MIM: 123670 MIM: 123680

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CRYGB PubMed Links

Gene Details

Gene

CRYGB

Gene Name

crystallin gamma B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005210.3	302	Missense Mutation	ACA,AGA	T90R	NP_005201.2
XM_017003402.1	302	Missense Mutation	ACA,AGA	T92R	XP_016858891.1

Gene

CRYGC

Gene Name

crystallin gamma C

There are no transcripts associated with this gene.

Gene

LOC100507443

Gene Name

uncharacterized LOC100507443

There are no transcripts associated with this gene.

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