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SNP ID

rs112028222

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:63006061 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGCCCGCGCGGTCACGGCTTCTC[C/G]TGACAGTGTTTGCAAAGCGCGGAGG

Phenotype

MIM: 609331

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BHLHE23 PubMed Links

Gene Details

Gene

BHLHE23

Gene Name

basic helix-loop-helix family member e23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080606.3	975	Missense Mutation	CAC,CAG	H238Q	NP_542173.2

Gene

LOC63930

Gene Name

uncharacterized LOC63930

There are no transcripts associated with this gene.

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