Product Details

SNP ID

rs201758526

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:6636132 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTACTCACACTGCTTTGGTATCC[A/G]GAGGGCCTCACTGTCCAGCACCATC

Phenotype

MIM: 614827 MIM: 612532

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DNAJC11 PubMed Links

Gene Details

Gene

DNAJC11

Gene Name

DnaJ heat shock protein family (Hsp40) member C11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018198.3	1745	Missense Mutation	CGG,TGG	R547W	NP_060668.2
XM_017001745.1	1745	Missense Mutation	CGG,TGG	R457W	XP_016857234.1

Gene

THAP3

Gene Name

THAP domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195752.1	1745	Intron			NP_001182681.1
NM_001195753.1	1745	Intron			NP_001182682.1
NM_138350.3	1745	Intron			NP_612359.2
XM_005263532.3	1745	Intron			XP_005263589.1
XM_011542400.2	1745	Intron			XP_011540702.1
XM_011542401.2	1745	Intron			XP_011540703.1
XM_017002761.1	1745	Intron			XP_016858250.1

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