Product Details

SNP ID

rs11214044

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:111921817 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATCCTTACAATAATCCCATGAGGT[C/G]TGAATTATATTATCATACTCATTTT

Phenotype

MIM: 123590 MIM: 610493 MIM: 602179

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

C11orf52 PubMed Links

Gene Details

Gene

C11orf52

Gene Name

chromosome 11 open reading frame 52

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080659.2		Intron			NP_542390.2

Gene

CRYAB

Gene Name

crystallin alpha B

There are no transcripts associated with this gene.

Gene

DIXDC1

Gene Name

DIX domain containing 1

There are no transcripts associated with this gene.

Gene

HSPB2

Gene Name

heat shock protein family B (small) member 2

There are no transcripts associated with this gene.

Gene

HSPB2-C11orf52

Gene Name

HSPB2-C11orf52 readthrough (NMD candidate)

There are no transcripts associated with this gene.

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