Product Details

SNP ID

rs201754988

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64224797 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCGTCTCGCACTTGTCCCCTCACCC[C/T]GACCTGCAGGGAATGGCCCTGGTTG

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	545	Intron			NP_113659.3
NM_178443.2	545	Intron			NP_848537.1
XM_011545294.2	545	Intron			XP_011543596.1
XM_011545295.2	545	Intron			XP_011543597.1
XM_017018398.1	545	Intron			XP_016873887.1
XM_017018399.1	545	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	545	Intron			NP_001028850.2
NM_001160389.1	545	Missense Mutation			NP_001153861.1
NM_001160390.1	545	Intron			NP_001153862.1
NM_001160392.1	545	Intron			NP_001153864.1
NM_001160393.1	545	Intron			NP_001153865.1
NM_031472.3	545	Intron			NP_113660.1
XM_005274345.4	545	Intron			XP_005274402.1
XM_005274346.4	545	Intron			XP_005274403.1
XM_005274347.4	545	Intron			XP_005274404.1
XM_006718706.3	545	Intron			XP_006718769.1
XM_006718707.3	545	Intron			XP_006718770.1
XM_017018400.1	545	Intron			XP_016873889.1
XM_017018401.1	545	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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