Product Details

SNP ID

rs201832808

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:63939996 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAGCTAACCCGTGTAGGCCACTT[C/T]CTCCTCGTCACTGCCATCGGGGACC

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	1908	Missense Mutation	AAA,GAA	K528E	NP_001180308.1
NM_017859.3	1908	Missense Mutation	AAA,GAA	K543E	NP_060329.2
XM_005260216.2	1908	Missense Mutation	AAA,GAA	K551E	XP_005260273.1
XM_006723806.2	1908	Missense Mutation	AAA,GAA	K553E	XP_006723869.1
XM_006723807.2	1908	Missense Mutation	AAA,GAA	K552E	XP_006723870.1
XM_006723808.1	1908	Missense Mutation	AAA,GAA	K552E	XP_006723871.1
XM_006723809.1	1908	Missense Mutation	AAA,GAA	K545E	XP_006723872.1
XM_006723810.1	1908	Missense Mutation	AAA,GAA	K544E	XP_006723873.1
XM_006723811.3	1908	Missense Mutation	AAA,GAA	K537E	XP_006723874.1
XM_011528868.2	1908	Missense Mutation	AAA,GAA	K538E	XP_011527170.1
XM_011528869.1	1908	Missense Mutation	AAA,GAA	K437E	XP_011527171.1
XM_011528870.1	1908	Missense Mutation	AAA,GAA	K427E	XP_011527172.1
XM_011528871.1	1908	Missense Mutation	AAA,GAA	K427E	XP_011527173.1
XM_011528872.1	1908	Missense Mutation	AAA,GAA	K427E	XP_011527174.1
XM_011528873.2	1908	Intron			XP_011527175.1
XM_017027894.1	1908	Intron			XP_016883383.1
XM_017027895.1	1908	Intron			XP_016883384.1
XM_017027896.1	1908	Missense Mutation	AAA,GAA	K544E	XP_016883385.1
XM_017027897.1	1908	Intron			XP_016883386.1
XM_017027898.1	1908	Missense Mutation	AAA,GAA	K543E	XP_016883387.1
XM_017027899.1	1908	Missense Mutation	AAA,GAA	K542E	XP_016883388.1
XM_017027900.1	1908	Missense Mutation	AAA,GAA	K528E	XP_016883389.1
XM_017027901.1	1908	Missense Mutation	AAA,GAA	K527E	XP_016883390.1
XM_017027902.1	1908	Missense Mutation	AAA,GAA	K429E	XP_016883391.1
XM_017027903.1	1908	Missense Mutation	AAA,GAA	K425E	XP_016883392.1
XM_017027904.1	1908	Missense Mutation	AAA,GAA	K337E	XP_016883393.1
XM_017027905.1	1908	Missense Mutation	AAA,GAA	K335E	XP_016883394.1
XM_017027906.1	1908	Missense Mutation	AAA,GAA	K335E	XP_016883395.1
XM_017027907.1	1908	Missense Mutation	AAA,GAA	K324E	XP_016883396.1
XM_017027908.1	1908	Missense Mutation	AAA,GAA	K324E	XP_016883397.1

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