Product Details

SNP ID

rs200589157

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:171692883 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCAAAGCATGGGGCTAACTCCAG[A/T]ATCCCCCATTGGTAAGGTTAAGAAT

Phenotype

MIM: 603331

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

DYNC1I2 PubMed Links

Gene Details

Gene

DYNC1I2

Gene Name

dynein cytoplasmic 1 intermediate chain 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271785.1	443	Missense Mutation	GAA,GTA	E72V	NP_001258714.1
NM_001271786.1	443	Missense Mutation	GAA,GTA	E72V	NP_001258715.1
NM_001271787.1	443	Missense Mutation	GAA,GTA	E72V	NP_001258716.1
NM_001271788.1	443	Missense Mutation	GAA,GTA	E72V	NP_001258717.1
NM_001271789.1	443	Missense Mutation	GAA,GTA	E72V	NP_001258718.1
NM_001271790.1	443	Missense Mutation	GAA,GTA	E72V	NP_001258719.1
NM_001320882.1	443	Missense Mutation	GAA,GTA	E72V	NP_001307811.1
NM_001320883.1	443	Missense Mutation	GAA,GTA	E72V	NP_001307812.1
NM_001320884.1	443	Missense Mutation	GAA,GTA	E72V	NP_001307813.1
NM_001378.2	443	Missense Mutation	GAA,GTA	E72V	NP_001369.1
XM_006712347.3	443	Intron			XP_006712410.1
XM_017003525.1	443	Intron			XP_016859014.1

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