Product Details

SNP ID

rs144788590

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:63940990 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGAGCGCGTGCTCGATGAGCAGC[C/T]GCATCAGTCTCTTGGAGTAGAAGAT

Phenotype

MIM: 611203 MIM: 610866

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DNAJC5 PubMed Links

Gene Details

Gene

DNAJC5

Gene Name

DnaJ heat shock protein family (Hsp40) member C5

There are no transcripts associated with this gene.

Gene

MIR1914

Gene Name

microRNA 1914

There are no transcripts associated with this gene.

Gene

MIR647

Gene Name

microRNA 647

There are no transcripts associated with this gene.

Gene

UCKL1

Gene Name

uridine-cytidine kinase 1 like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193379.1	1357	Missense Mutation	CAG,CGG	Q344R	NP_001180308.1
NM_017859.3	1357	Missense Mutation	CAG,CGG	Q359R	NP_060329.2
XM_005260216.2	1357	Missense Mutation	CAG,CGG	Q367R	XP_005260273.1
XM_006723806.2	1357	Missense Mutation	CAG,CGG	Q369R	XP_006723869.1
XM_006723807.2	1357	Missense Mutation	CAG,CGG	Q368R	XP_006723870.1
XM_006723808.1	1357	Missense Mutation	CAG,CGG	Q368R	XP_006723871.1
XM_006723809.1	1357	Missense Mutation	CAG,CGG	Q361R	XP_006723872.1
XM_006723810.1	1357	Missense Mutation	CAG,CGG	Q360R	XP_006723873.1
XM_006723811.3	1357	Missense Mutation	CAG,CGG	Q353R	XP_006723874.1
XM_011528868.2	1357	Missense Mutation	CAG,CGG	Q354R	XP_011527170.1
XM_011528869.1	1357	Missense Mutation	CAG,CGG	Q253R	XP_011527171.1
XM_011528870.1	1357	Missense Mutation	CAG,CGG	Q243R	XP_011527172.1
XM_011528871.1	1357	Missense Mutation	CAG,CGG	Q243R	XP_011527173.1
XM_011528872.1	1357	Missense Mutation	CAG,CGG	Q243R	XP_011527174.1
XM_011528873.2	1357	Intron			XP_011527175.1
XM_017027894.1	1357	Intron			XP_016883383.1
XM_017027895.1	1357	Intron			XP_016883384.1
XM_017027896.1	1357	Missense Mutation	CAG,CGG	Q360R	XP_016883385.1
XM_017027897.1	1357	Intron			XP_016883386.1
XM_017027898.1	1357	Missense Mutation	CAG,CGG	Q359R	XP_016883387.1
XM_017027899.1	1357	Missense Mutation	CAG,CGG	Q358R	XP_016883388.1
XM_017027900.1	1357	Missense Mutation	CAG,CGG	Q344R	XP_016883389.1
XM_017027901.1	1357	Missense Mutation	CAG,CGG	Q343R	XP_016883390.1
XM_017027902.1	1357	Missense Mutation	CAG,CGG	Q245R	XP_016883391.1
XM_017027903.1	1357	Missense Mutation	CAG,CGG	Q241R	XP_016883392.1
XM_017027904.1	1357	Missense Mutation	CAG,CGG	Q153R	XP_016883393.1
XM_017027905.1	1357	Missense Mutation	CAG,CGG	Q151R	XP_016883394.1
XM_017027906.1	1357	Missense Mutation	CAG,CGG	Q151R	XP_016883395.1
XM_017027907.1	1357	Missense Mutation	CAG,CGG	Q140R	XP_016883396.1
XM_017027908.1	1357	Missense Mutation	CAG,CGG	Q140R	XP_016883397.1

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