Product Details

SNP ID

rs149081883

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64224653 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGATGGCCAGTGCTTCCAGAATGTA[C/T]CATGGACTAGCATCGGGGGCAGGGC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031471.5	606	Intron			NP_113659.3
NM_178443.2	606	Intron			NP_848537.1
XM_011545294.2	606	Intron			XP_011543596.1
XM_011545295.2	606	Intron			XP_011543597.1
XM_017018398.1	606	Intron			XP_016873887.1
XM_017018399.1	606	Intron			XP_016873888.1

Gene

NUDT22

Gene Name

nudix hydrolase 22

There are no transcripts associated with this gene.

Gene

TRPT1

Gene Name

tRNA phosphotransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033678.3	606	Missense Mutation	GAT,GGT	D131G	NP_001028850.2
NM_001160389.1	606	Missense Mutation	GAT,GGT	D133G	NP_001153861.1
NM_001160390.1	606	Missense Mutation	GAT,GGT	D131G	NP_001153862.1
NM_001160392.1	606	Missense Mutation	GAT,GGT	D131G	NP_001153864.1
NM_001160393.1	606	Missense Mutation	GAT,GGT	D131G	NP_001153865.1
NM_031472.3	606	Missense Mutation	GAT,GGT	D82G	NP_113660.1
XM_005274345.4	606	Missense Mutation	GAT,GGT	D131G	XP_005274402.1
XM_005274346.4	606	Missense Mutation	GAT,GGT	D131G	XP_005274403.1
XM_005274347.4	606	Missense Mutation	GAT,GGT	D82G	XP_005274404.1
XM_006718706.3	606	Missense Mutation	GAT,GGT	D131G	XP_006718769.1
XM_006718707.3	606	Missense Mutation	GAT,GGT	D131G	XP_006718770.1
XM_017018400.1	606	Missense Mutation	GAT,GGT	D82G	XP_016873889.1
XM_017018401.1	606	Missense Mutation	GAT,GGT	D82G	XP_016873890.1

Gene

VEGFB

Gene Name

vascular endothelial growth factor B

There are no transcripts associated with this gene.

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