Product Details

SNP ID

rs202093419

Assay Type

Functionally tested

NCBI dbSNP Submissions

9

Location

Chr.1:160370817 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGGGCTTCAGTGACTGTGGGGGCG[A/G]GGCGGGCCCTGATGGTGCCGGGCCT

Phenotype

MIM: 162360

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NHLH1 PubMed Links

Gene Details

Gene

NHLH1

Gene Name

nescient helix-loop-helix 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005598.3	528	Missense Mutation	GAG,GGG	E29G	NP_005589.1

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