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SNP ID: rs146569701
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.11:111913459 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCTTTAGGCCTCCTGCCAGAAGAGA[C/T]CCTGACCCCCACACTCTACCATGGC
Phenotype: MIM: 123590 MIM: 602179
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: C11orf52 PubMed Links

Gene Details

Gene: C11orf52
Gene Name: chromosome 11 open reading frame 52

There are no transcripts associated with this gene.

Gene: CRYAB
Gene Name: crystallin alpha B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001289807.1	207	Intron			NP_001276736.1
NM_001289808.1	207	Intron			NP_001276737.1
NM_001885.2	207	Intron			NP_001876.1
XM_011542608.1	207	Intron			XP_011540910.1
XM_011542609.2	207	Intron			XP_011540911.1

Gene: HSPB2
Gene Name: heat shock protein family B (small) member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001541.3	207	Missense Mutation	ACC,ATC	T38I	NP_001532.1

Gene: HSPB2-C11orf52
Gene Name: HSPB2-C11orf52 readthrough (NMD candidate)

There are no transcripts associated with this gene.

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