Product Details

SNP ID

rs148322943

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:102958710 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCGCGGCCAACAAGAAGATGAGT[A/G]AGGTGGAGACACTGCGCTCGGCGGT

Phenotype

MIM: 100790

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ASCL1 PubMed Links

Gene Details

Gene

ASCL1

Gene Name

achaete-scute family bHLH transcription factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004316.3	1037	Missense Mutation	AAG,GAG	K156E	NP_004307.2

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