Product Details

SNP ID

rs72788065

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:57472324 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAACAAAAAACCCCACACAACCAAA[A/G]GTTTGACGTGAATAGAAAGATAGCC

Phenotype

MIM: 608333 MIM: 180663

Polymorphism

A/G, 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	2443	UTR 3			NP_060580.2
XM_005256042.3	2443	UTR 3			XP_005256099.1
XM_005256043.2	2443	UTR 3			XP_005256100.1

Gene

POLR2C

Gene Name

RNA polymerase II subunit C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032940.2	2443	Intron			NP_116558.1

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