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SNP ID

rs142219748

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:42516123 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACGAGGCCACAGGTGGACAGGAGG[C/T]GGGACAGGCTCTCCTGCCGCAGGGA

Phenotype

MIM: 607979

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RRP7A PubMed Links

Gene Details

Gene

RRP7A

Gene Name

ribosomal RNA processing 7 homolog A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015703.4	267	Missense Mutation	CAC,CGC	H77R	NP_056518.2

Gene

SERHL

Gene Name

serine hydrolase-like (pseudogene)

There are no transcripts associated with this gene.

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