Product Details

SNP ID

rs142996620

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:25202694 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTAGGTGATCTTGTACGAACTAGA[G/T]AACTTCCAAGGCAAACGCTGCGAGC

Phenotype

MIM: 123620 MIM: 123630

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CRYBB2 PubMed Links

Gene Details

Gene

CRYBB2

Gene Name

crystallin beta B2

There are no transcripts associated with this gene.

Gene

CRYBB3

Gene Name

crystallin beta B3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004076.4	714	Missense Mutation	GAG,GAT	E32D	NP_004067.1
XM_011529902.2	714	Missense Mutation	GAG,GAT	E88D	XP_011528204.1
XM_017028599.1	714	Missense Mutation	GAG,GAT	E88D	XP_016884088.1

Gene

KIAA1671

Gene Name

KIAA1671

There are no transcripts associated with this gene.

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