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SNP ID

rs672601339

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:1270787 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCATGGCCGCCAACGTGCGGGAGC[G/T]CAAGCGCATCCTAGACTACAACGAG

Phenotype

MIM: 615416 MIM: 612211

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

BHLHA9 PubMed Links

Gene Details

Gene

BHLHA9

Gene Name

basic helix-loop-helix family member a9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164405.1	224	Missense Mutation	CGC,CTC	R75L	NP_001157877.1

Gene

TUSC5

Gene Name

tumor suppressor candidate 5

There are no transcripts associated with this gene.

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