Product Details

SNP ID: rs137986699
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:30345358 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCAGGCGCTGGCGAGGTTTTACTGC[C/T]ACACTGAGAGGACCATTGCGAAGCG
Phenotype: MIM: 612524 MIM: 605700
Polymorphism: C/T, Transition 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	1172	Missense Mutation	CAC,TAC	H40Y	NP_001186049.1
NM_001199121.1	1172	Missense Mutation	CAC,TAC	H40Y	NP_001186050.1
NM_024839.2	1172	Missense Mutation	CAC,TAC	H40Y	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	1172	Missense Mutation	CAC,TAC	H389Y	NP_001186048.1

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