Product Details

SNP ID

rs187500280

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144054724 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATAGAACACAGGCCGCGTCTGACC[C/T]GGCCAAAACACCTAGCGGGTGGAGA

Phenotype

MIM: 606491 MIM: 614243 MIM: 610874

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EXOSC4 PubMed Links

Gene Details

Gene

EXOSC4

Gene Name

exosome component 4

There are no transcripts associated with this gene.

Gene

MIR6846

Gene Name

microRNA 6846

There are no transcripts associated with this gene.

Gene

OPLAH

Gene Name

5-oxoprolinase (ATP-hydrolysing)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017570.4	2627	Silent Mutation	CCA,CCG	P841P	NP_060040.1
XM_011516960.1	2627	Silent Mutation	CCA,CCG	P937P	XP_011515262.1

Gene

SMPD5

Gene Name

sphingomyelin phosphodiesterase 5

There are no transcripts associated with this gene.

Gene

SPATC1

Gene Name

spermatogenesis and centriole associated 1

There are no transcripts associated with this gene.

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