Product Details

SNP ID

rs148123253

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:57475105 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCCAGGGCCCGGCCTCACCTGTC[C/T]GTTCACACTGCACCCCTGGGGCCAG

Phenotype

MIM: 608333 MIM: 180663

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DOK4 PubMed Links

Gene Details

Gene

DOK4

Gene Name

docking protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018110.3	696	Missense Mutation	CAG,CGG	Q135R	NP_060580.2
XM_005256042.3	696	Missense Mutation	CAG,CGG	Q135R	XP_005256099.1
XM_005256043.2	696	Missense Mutation	CAG,CGG	Q135R	XP_005256100.1

Gene

POLR2C

Gene Name

RNA polymerase II subunit C

There are no transcripts associated with this gene.

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