Product Details

SNP ID

rs140905741

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:101979431 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCTACGAAACTTTGCATTCTTTC[A/G]TTAGCAATGCAGTGGCTCCTTTTTT

Phenotype

MIM: 600112

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DYNC1H1 PubMed Links

Gene Details

Gene

DYNC1H1

Gene Name

dynein cytoplasmic 1 heavy chain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001376.4	621	Missense Mutation	ATT,GTT	I153V	NP_001367.2

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