Product Details

SNP ID

rs143200811

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64224683 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTAGCATCGGGGGCAGGGCCTGC[A/G]GTGTCTCCAGGGGCATCAGCTCCAA

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031471.5	576	Intron			NP_113659.3
NM_178443.2	576	Intron			NP_848537.1
XM_011545294.2	576	Intron			XP_011543596.1
XM_011545295.2	576	Intron			XP_011543597.1
XM_017018398.1	576	Intron			XP_016873887.1
XM_017018399.1	576	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	576	Missense Mutation	CCG,CTG	P121L	NP_001028850.2
NM_001160389.1	576	Missense Mutation	CCG,CTG	P123L	NP_001153861.1
NM_001160390.1	576	Missense Mutation	CCG,CTG	P121L	NP_001153862.1
NM_001160392.1	576	Missense Mutation	CCG,CTG	P121L	NP_001153864.1
NM_001160393.1	576	Missense Mutation	CCG,CTG	P121L	NP_001153865.1
NM_031472.3	576	Missense Mutation	CCG,CTG	P72L	NP_113660.1
XM_005274345.4	576	Missense Mutation	CCG,CTG	P121L	XP_005274402.1
XM_005274346.4	576	Missense Mutation	CCG,CTG	P121L	XP_005274403.1
XM_005274347.4	576	Missense Mutation	CCG,CTG	P72L	XP_005274404.1
XM_006718706.3	576	Missense Mutation	CCG,CTG	P121L	XP_006718769.1
XM_006718707.3	576	Missense Mutation	CCG,CTG	P121L	XP_006718770.1
XM_017018400.1	576	Missense Mutation	CCG,CTG	P72L	XP_016873889.1
XM_017018401.1	576	Missense Mutation	CCG,CTG	P72L	XP_016873890.1

Gene

VEGFB

Gene Name

vascular endothelial growth factor B

There are no transcripts associated with this gene.

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