Product Details

SNP ID

rs146774292

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:64224184 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCCTGGAGTCAGAATCACCCCAT[C/T]GGCAGAGCGGAAGAAGGGTATTCCA

Phenotype

MIM: 604189 MIM: 607901 MIM: 610470

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	800	Intron			NP_113659.3
NM_178443.2	800	Intron			NP_848537.1
XM_011545294.2	800	Intron			XP_011543596.1
XM_011545295.2	800	Intron			XP_011543597.1
XM_017018398.1	800	Intron			XP_016873887.1
XM_017018399.1	800	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	800	Missense Mutation	AAT,GAT	N196D	NP_001028850.2
NM_001160389.1	800	Missense Mutation	AAT,GAT	N198D	NP_001153861.1
NM_001160390.1	800	Missense Mutation	AAT,GAT	N196D	NP_001153862.1
NM_001160392.1	800	Intron			NP_001153864.1
NM_001160393.1	800	Missense Mutation	AAT,GAT	N197D	NP_001153865.1
NM_031472.3	800	Missense Mutation	AAT,GAT	N147D	NP_113660.1
XM_005274345.4	800	Missense Mutation	AAT,GAT	N197D	XP_005274402.1
XM_005274346.4	800	Missense Mutation	AAT,GAT	N197D	XP_005274403.1
XM_005274347.4	800	Missense Mutation	AAT,GAT	N148D	XP_005274404.1
XM_006718706.3	800	Missense Mutation	AAT,GAT	N197D	XP_006718769.1
XM_006718707.3	800	Missense Mutation	AAT,GAT	N197D	XP_006718770.1
XM_017018400.1	800	Missense Mutation	AAT,GAT	N148D	XP_016873889.1
XM_017018401.1	800	Intron			XP_016873890.1

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