Product Details

SNP ID

rs147358478

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:33488892 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTGTAGTTTCTGCTTTTGATATT[A/C]CATCACTTGTTCAGCAGCACGGTCT

Phenotype

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DNAJC28 PubMed Links

Gene Details

Gene

DNAJC28

Gene Name

DnaJ heat shock protein family (Hsp40) member C28

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040192.2	951	Missense Mutation			NP_001035282.1
NM_001320746.1	951	Nonsense Mutation			NP_001307675.1
NM_017833.4	951	Missense Mutation			NP_060303.2

Gene

TMEM50B

Gene Name

transmembrane protein 50B

There are no transcripts associated with this gene.

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