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SNP ID

rs141284130

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:4980377 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTAACGAGTGCATCGCCCAGCTGA[A/G]GGATCTCCTACCCGAACATCTCAAA

Phenotype

MIM: 604256

Polymorphism

A/G, Transition 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	534	Missense Mutation	AAG,AGG	K76R	NP_003661.1

Gene

BHLHE40-AS1

Gene Name

BHLHE40 antisense RNA 1

There are no transcripts associated with this gene.

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