Product Details

SNP ID

rs142094831

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:21756729 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTCTTTTGGACCAGTTCAACCAG[A/C]AACTTGTACCTAGCGATACAGTCTT

Phenotype

MIM: 611207

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DNAJC1 PubMed Links

Gene Details

Gene

DNAJC1

Gene Name

DnaJ heat shock protein family (Hsp40) member C1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022365.3	1910	Missense Mutation	TTG,TTT	L541F	NP_071760.2
XM_011519614.2	1910	Intron			XP_011517916.1
XM_017016536.1	1910	Intron			XP_016872025.1

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