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SNP ID: rs6986
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:30345563 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: TCGTCCCGGGCCTCACCTGCACCCA[C/G]CGCCAGAGACGTGAGTGCTCCAACG
Phenotype: MIM: 612524 MIM: 605700
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: RPP21 PubMed Links

Gene Details

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199120.1	1285	Missense Mutation	CAC,CAG	H85Q	NP_001186049.1
NM_001199121.1	1285	Missense Mutation	CAC,CAG	H77Q	NP_001186050.1
NM_024839.2	1285	Missense Mutation	CAC,CAG	H77Q	NP_079115.1

Gene: TRIM39
Gene Name: tripartite motif containing 39

There are no transcripts associated with this gene.

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199119.1	1285	Missense Mutation	CAC,CAG	H426Q	NP_001186048.1

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