Product Details

SNP ID

rs142889509

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64227067 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGATGACTTCCTTGTCTTCCTGCGC[C/T]GCTCCCGGCAGGTGGCTGAGGCCCC

Phenotype

MIM: 604189 MIM: 607901 MIM: 610470 MIM: 601398

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DNAJC4 PubMed Links

Gene Details

Gene

DNAJC4

Gene Name

DnaJ heat shock protein family (Hsp40) member C4

There are no transcripts associated with this gene.

Gene

FERMT3

Gene Name

fermitin family member 3

There are no transcripts associated with this gene.

Gene

NUDT22

Gene Name

nudix hydrolase 22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128612.2	473	Missense Mutation	CGC,TGC	R139C	NP_001122084.1
NM_001128613.2	473	Missense Mutation	CGC,TGC	R139C	NP_001122085.1
NM_001271831.1	473	Missense Mutation	CGC,TGC	R139C	NP_001258760.1
NM_032344.3	473	Missense Mutation	CGC,TGC	R139C	NP_115720.1

Gene

TRPT1

Gene Name

tRNA phosphotransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033678.3	473	Intron			NP_001028850.2
NM_001160389.1	473	Intron			NP_001153861.1
NM_001160390.1	473	Intron			NP_001153862.1
NM_001160392.1	473	Intron			NP_001153864.1
NM_001160393.1	473	Intron			NP_001153865.1
NM_031472.3	473	Intron			NP_113660.1
XM_005274345.4	473	Intron			XP_005274402.1
XM_005274346.4	473	Intron			XP_005274403.1
XM_005274347.4	473	Intron			XP_005274404.1
XM_006718706.3	473	Intron			XP_006718769.1
XM_006718707.3	473	Intron			XP_006718770.1
XM_017018400.1	473	Intron			XP_016873889.1
XM_017018401.1	473	Intron			XP_016873890.1

Gene

VEGFB

Gene Name

vascular endothelial growth factor B

There are no transcripts associated with this gene.

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