Product Details

SNP ID

rs2294532

Assay Type

Validated

NCBI dbSNP Submissions

38

Location

Chr.1:6634867 on Build GRCh38

Set Membership

JSNP Validated

Context Sequence [VIC/FAM]

TGTCTTGCCAAGCGCCTGGTCCTGT[C/T]CTCTTGAGCTGCCCTTGCCCAGCAC

Phenotype

MIM: 614827 MIM: 612532

Polymorphism

C/T, 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	1313	UTR 3			NP_060668.2
XM_017001745.1	1313	UTR 3			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	1313	Intron			NP_001182681.1
NM_001195753.1	1313	Intron			NP_001182682.1
NM_138350.3	1313	UTR 3			NP_612359.2
XM_005263532.3	1313	Intron			XP_005263589.1
XM_011542400.2	1313	Intron			XP_011540702.1
XM_011542401.2	1313	Intron			XP_011540703.1
XM_017002761.1	1313	UTR 3			XP_016858250.1

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