Product Details

SNP ID: rs192411663
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:30335889 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCAGCGACTCCGAGAAAATGCTGCT[C/G]ACCTTGGGGACAAGCGCCGGGACCT
Phenotype: MIM: 612524 MIM: 605700
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: HCG17 PubMed Links

Gene Details

Gene: HCG17
Gene Name: HLA complex group 17 (non-protein coding)

There are no transcripts associated with this gene.

Gene: HCG18
Gene Name: HLA complex group 18 (non-protein coding)

There are no transcripts associated with this gene.

Gene: RPP21
Gene Name: ribonuclease P/MRP subunit p21

There are no transcripts associated with this gene.

Gene: TRIM39
Gene Name: tripartite motif containing 39

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021253.3	701	Missense Mutation	CAC,GAC	H232D	NP_067076.2
NM_172016.2	701	Missense Mutation	CAC,GAC	H232D	NP_742013.1

Gene: TRIM39-RPP21
Gene Name: TRIM39-RPP21 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199119.1	701	Missense Mutation	CAC,GAC	H232D	NP_001186048.1

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