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SNP ID

rs200476598

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:160371129 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTACCTGAACCACGTGCTGGACG[A/T]CTGAACTCAGCCTGTCTCCCACCTC

Phenotype

MIM: 162360

Polymorphism

A/T, Transversion 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	840	Missense Mutation	GAC,GTC	D133V	NP_005589.1

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