Product Details

SNP ID

rs147831812

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:25201434 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACGGAGCACCCGAACAGGCTGCAG[C/G]TGGCAAGAGCCATGGAGACCTTGGG

Phenotype

MIM: 123630

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CRYBB3 PubMed Links

Gene Details

Gene

CRYBB3

Gene Name

crystallin beta B3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004076.4	656	Missense Mutation	GCT,GGT	A13G	NP_004067.1
XM_011529902.2	656	Missense Mutation	GCT,GGT	A69G	XP_011528204.1
XM_017028599.1	656	Missense Mutation	GCT,GGT	A69G	XP_016884088.1

Gene

KIAA1671

Gene Name

KIAA1671

There are no transcripts associated with this gene.

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