Product Details

SNP ID

rs148409099

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:160370964 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCGCGCCACAGCCAAGTACCGCA[C/T]GGCCCACGCCACGCGAGAACGCATC

Phenotype

MIM: 162360

Polymorphism

C/T, 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	675	Missense Mutation	ACG,ATG	T78M	NP_005589.1

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