Product Details

SNP ID

rs200517253

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:120581205 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGAGGCTGCTCAGAACTCGGTCAT[C/T]GAGGCTTAGGCGGCAGCGGGGGTCG

Phenotype

MIM: 609992 MIM: 615998

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

POP5 PubMed Links

Gene Details

Gene

POP5

Gene Name

POP5 homolog, ribonuclease P/MRP subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015918.3	105	Missense Mutation			NP_057002.2
NM_198202.1	105	Missense Mutation			NP_937845.1
XM_011538441.1	105	Missense Mutation			XP_011536743.1

Gene

RNF10

Gene Name

ring finger protein 10

There are no transcripts associated with this gene.

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