Product Details

SNP ID

rs200572745

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:208128448 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGAGGCCTTTGTGGTCTTCCCTCT[C/T]GTACAGCCGCAGCCTGTGGGAGACT

Phenotype

MIM: 123680 MIM: 123690

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CRYGC PubMed Links

Gene Details

Gene

CRYGC

Gene Name

crystallin gamma C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020989.3	318	Missense Mutation			NP_066269.1
XM_011510662.1	318	Missense Mutation			XP_011508964.1

Gene

CRYGD

Gene Name

crystallin gamma D

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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