Product Details

SNP ID

rs75077777

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:63940194 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAAGGTCATTGACCCGCTTGTCC[A/C]CCGCCGTGGTGATGATTCTCACTCG

Phenotype

MIM: 611203 MIM: 610866

Polymorphism

A/C, Transversion 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	1804	Missense Mutation	GGG,GTG	G493V	NP_001180308.1
NM_017859.3	1804	Missense Mutation	GGG,GTG	G508V	NP_060329.2
XM_005260216.2	1804	Missense Mutation	GGG,GTG	G516V	XP_005260273.1
XM_006723806.2	1804	Missense Mutation	GGG,GTG	G518V	XP_006723869.1
XM_006723807.2	1804	Missense Mutation	GGG,GTG	G517V	XP_006723870.1
XM_006723808.1	1804	Missense Mutation	GGG,GTG	G517V	XP_006723871.1
XM_006723809.1	1804	Missense Mutation	GGG,GTG	G510V	XP_006723872.1
XM_006723810.1	1804	Missense Mutation	GGG,GTG	G509V	XP_006723873.1
XM_006723811.3	1804	Missense Mutation	GGG,GTG	G502V	XP_006723874.1
XM_011528868.2	1804	Missense Mutation	GGG,GTG	G503V	XP_011527170.1
XM_011528869.1	1804	Missense Mutation	GGG,GTG	G402V	XP_011527171.1
XM_011528870.1	1804	Missense Mutation	GGG,GTG	G392V	XP_011527172.1
XM_011528871.1	1804	Missense Mutation	GGG,GTG	G392V	XP_011527173.1
XM_011528872.1	1804	Missense Mutation	GGG,GTG	G392V	XP_011527174.1
XM_011528873.2	1804	Intron			XP_011527175.1
XM_017027894.1	1804	Intron			XP_016883383.1
XM_017027895.1	1804	Intron			XP_016883384.1
XM_017027896.1	1804	Missense Mutation	GGG,GTG	G509V	XP_016883385.1
XM_017027897.1	1804	Intron			XP_016883386.1
XM_017027898.1	1804	Missense Mutation	GGG,GTG	G508V	XP_016883387.1
XM_017027899.1	1804	Missense Mutation	GGG,GTG	G507V	XP_016883388.1
XM_017027900.1	1804	Missense Mutation	GGG,GTG	G493V	XP_016883389.1
XM_017027901.1	1804	Missense Mutation	GGG,GTG	G492V	XP_016883390.1
XM_017027902.1	1804	Missense Mutation	GGG,GTG	G394V	XP_016883391.1
XM_017027903.1	1804	Missense Mutation	GGG,GTG	G390V	XP_016883392.1
XM_017027904.1	1804	Missense Mutation	GGG,GTG	G302V	XP_016883393.1
XM_017027905.1	1804	Missense Mutation	GGG,GTG	G300V	XP_016883394.1
XM_017027906.1	1804	Missense Mutation	GGG,GTG	G300V	XP_016883395.1
XM_017027907.1	1804	Missense Mutation	GGG,GTG	G289V	XP_016883396.1
XM_017027908.1	1804	Missense Mutation	GGG,GTG	G289V	XP_016883397.1

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