Product Details

SNP ID

rs147634094

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:181678103 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAGGGCTTTCAAAGAAGGGCTCC[A/G]GCGCTGCGCTGTAGGCGTGCGGCGG

Phenotype

MIM: 601724

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NEUROD1 PubMed Links

Gene Details

Gene

NEUROD1

Gene Name

neuronal differentiation 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002500.4	1005	Missense Mutation	CCG,CTG	P253L	NP_002491.2

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