Product Details

SNP ID

rs200450008

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64226806 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCTGGGAGACCCGGCTAAAGGCC[A/C]AACCCTGGCTCTTCGACGCCCCCAA

Phenotype

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

Polymorphism

A/C, Transversion 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	212	Missense Mutation	AAA,CAA	K52Q	NP_001122084.1
NM_001128613.2	212	Missense Mutation	AAA,CAA	K52Q	NP_001122085.1
NM_001271831.1	212	Missense Mutation	AAA,CAA	K52Q	NP_001258760.1
NM_032344.3	212	Missense Mutation	AAA,CAA	K52Q	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	212	Intron			NP_001028850.2
NM_001160389.1	212	Intron			NP_001153861.1
NM_001160390.1	212	Intron			NP_001153862.1
NM_001160392.1	212	Intron			NP_001153864.1
NM_001160393.1	212	Intron			NP_001153865.1
NM_031472.3	212	Intron			NP_113660.1
XM_005274345.4	212	Intron			XP_005274402.1
XM_005274346.4	212	Intron			XP_005274403.1
XM_005274347.4	212	Intron			XP_005274404.1
XM_006718706.3	212	Intron			XP_006718769.1
XM_006718707.3	212	Intron			XP_006718770.1
XM_017018400.1	212	Intron			XP_016873889.1
XM_017018401.1	212	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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