Product Details

SNP ID: rs11545648
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:103354896 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CAGAGCACTTACTCTAGGCAGATCA[A/T]GCAAGTTGAAGATGACATTCAGCAA
Phenotype: MIM: 605502 MIM: 154365 MIM: 604943
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: DNAJC2 PubMed Links

Gene Details

Gene: DNAJC2
Gene Name: DnaJ heat shock protein family (Hsp40) member C2

There are no transcripts associated with this gene.

Gene: PSMC2
Gene Name: proteasome 26S subunit, ATPase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204453.1	446	Missense Mutation	AAG,ATG	K46M	NP_001191382.1
NM_002803.3	446	Missense Mutation	AAG,ATG	K46M	NP_002794.1
XM_005250505.1	446	Missense Mutation	AAG,ATG	K46M	XP_005250562.1

Gene: SLC26A5
Gene Name: solute carrier family 26 member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167962.1	446	Intron			NP_001161434.1
NM_001321787.1	446	Intron			NP_001308716.1
NM_198999.2	446	Intron			NP_945350.1
NM_206883.2	446	Intron			NP_996766.1
NM_206884.2	446	Intron			NP_996767.1
NM_206885.2	446	Intron			NP_996768.1
XM_011516170.2	446	Intron			XP_011514472.1

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