Product Details

SNP ID

rs139120395

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:63940016 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTTCCTCCTCGTCACTGCCATCG[A/G]GGACCGCGTCTGTCCCAAAGTAGCG

Phenotype

MIM: 611203 MIM: 610866

Polymorphism

A/G, 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	1888	Missense Mutation	CCC,CTC	P521L	NP_001180308.1
NM_017859.3	1888	Missense Mutation	CCC,CTC	P536L	NP_060329.2
XM_005260216.2	1888	Missense Mutation	CCC,CTC	P544L	XP_005260273.1
XM_006723806.2	1888	Missense Mutation	CCC,CTC	P546L	XP_006723869.1
XM_006723807.2	1888	Missense Mutation	CCC,CTC	P545L	XP_006723870.1
XM_006723808.1	1888	Missense Mutation	CCC,CTC	P545L	XP_006723871.1
XM_006723809.1	1888	Missense Mutation	CCC,CTC	P538L	XP_006723872.1
XM_006723810.1	1888	Missense Mutation	CCC,CTC	P537L	XP_006723873.1
XM_006723811.3	1888	Missense Mutation	CCC,CTC	P530L	XP_006723874.1
XM_011528868.2	1888	Missense Mutation	CCC,CTC	P531L	XP_011527170.1
XM_011528869.1	1888	Missense Mutation	CCC,CTC	P430L	XP_011527171.1
XM_011528870.1	1888	Missense Mutation	CCC,CTC	P420L	XP_011527172.1
XM_011528871.1	1888	Missense Mutation	CCC,CTC	P420L	XP_011527173.1
XM_011528872.1	1888	Missense Mutation	CCC,CTC	P420L	XP_011527174.1
XM_011528873.2	1888	Intron			XP_011527175.1
XM_017027894.1	1888	Intron			XP_016883383.1
XM_017027895.1	1888	Intron			XP_016883384.1
XM_017027896.1	1888	Missense Mutation	CCC,CTC	P537L	XP_016883385.1
XM_017027897.1	1888	Intron			XP_016883386.1
XM_017027898.1	1888	Missense Mutation	CCC,CTC	P536L	XP_016883387.1
XM_017027899.1	1888	Missense Mutation	CCC,CTC	P535L	XP_016883388.1
XM_017027900.1	1888	Missense Mutation	CCC,CTC	P521L	XP_016883389.1
XM_017027901.1	1888	Missense Mutation	CCC,CTC	P520L	XP_016883390.1
XM_017027902.1	1888	Missense Mutation	CCC,CTC	P422L	XP_016883391.1
XM_017027903.1	1888	Missense Mutation	CCC,CTC	P418L	XP_016883392.1
XM_017027904.1	1888	Missense Mutation	CCC,CTC	P330L	XP_016883393.1
XM_017027905.1	1888	Missense Mutation	CCC,CTC	P328L	XP_016883394.1
XM_017027906.1	1888	Missense Mutation	CCC,CTC	P328L	XP_016883395.1
XM_017027907.1	1888	Missense Mutation	CCC,CTC	P317L	XP_016883396.1
XM_017027908.1	1888	Missense Mutation	CCC,CTC	P317L	XP_016883397.1

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