Product Details

SNP ID

rs200984499

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64225510 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCCCCTACTTACCAGCTCCCATG[A/G]GAAGCCCCAGCTTCAAGGCCCCATG

Phenotype

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

Polymorphism

A/G, 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	360	Intron			NP_001122084.1
NM_001128613.2	360	Intron			NP_001122085.1
NM_001271831.1	360	Intron			NP_001258760.1
NM_032344.3	360	Intron			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	360	Missense Mutation	CCC,CTC	P49L	NP_001028850.2
NM_001160389.1	360	Missense Mutation	CCC,CTC	P49L	NP_001153861.1
NM_001160390.1	360	Missense Mutation	CCC,CTC	P49L	NP_001153862.1
NM_001160392.1	360	Missense Mutation	CCC,CTC	P49L	NP_001153864.1
NM_001160393.1	360	Missense Mutation	CCC,CTC	P49L	NP_001153865.1
NM_031472.3	360	UTR 5			NP_113660.1
XM_005274345.4	360	Missense Mutation	CCC,CTC	P49L	XP_005274402.1
XM_005274346.4	360	Missense Mutation	CCC,CTC	P49L	XP_005274403.1
XM_005274347.4	360	UTR 5			XP_005274404.1
XM_006718706.3	360	Missense Mutation	CCC,CTC	P49L	XP_006718769.1
XM_006718707.3	360	Missense Mutation	CCC,CTC	P49L	XP_006718770.1
XM_017018400.1	360	UTR 5			XP_016873889.1
XM_017018401.1	360	UTR 5			XP_016873890.1

Gene

VEGFB

Gene Name

vascular endothelial growth factor B

There are no transcripts associated with this gene.

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