Product Details

SNP ID

rs5996857

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:25211818 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTTAGCGCCAAGAGATCATTTTACC[A/C]GCTTAATTGAGAGGCAGTATTGCTC

Phenotype

MIM: 123620 MIM: 123630

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CRYBB2 PubMed Links

Gene Details

Gene

CRYBB2

Gene Name

crystallin beta B2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000496.2	159	Intron			NP_000487.1
XM_006724141.3	159	UTR 5			XP_006724204.1
XM_011529900.2	159	UTR 5			XP_011528202.1

Gene

CRYBB3

Gene Name

crystallin beta B3

There are no transcripts associated with this gene.

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