Product Details

SNP ID

rs139609998

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:208145915 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATCATCCAGCAGCCGCTCTCCAC[C/G]CTGATGGAGTTGCAGCGGCTGAAAT

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	144	Missense Mutation	AGC,AGG	S37R	NP_005201.2
XM_017003402.1	144	Missense Mutation	AGC,AGG	S37R	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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