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SNP ID

rs145050354

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:4983030 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTGGTACCTCCAGGAAGCCATCA[C/G]ACCCAGCTCCCAAAGTGATGGACTT

Phenotype

MIM: 604256

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BHLHE40 PubMed Links

Gene Details

Gene

BHLHE40

Gene Name

basic helix-loop-helix family member e40

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003670.2	884	Missense Mutation	CAC,GAC	H193D	NP_003661.1

Gene

BHLHE40-AS1

Gene Name

BHLHE40 antisense RNA 1

There are no transcripts associated with this gene.

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