Product Details

SNP ID

rs148481038

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144078866 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCCTACATTGAGCAGGGCAACAC[A/C]AAGGCACTGGCTGTGGTCTACGGCC

Phenotype

MIM: 606491 MIM: 603048

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

EXOSC4 PubMed Links

Gene Details

Gene

EXOSC4

Gene Name

exosome component 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_019037.2	248	Silent Mutation	ACA,ACC	T46T	NP_061910.1
XM_011517134.2	248	Intron			XP_011515436.1

Gene

GPAA1

Gene Name

glycosylphosphatidylinositol anchor attachment 1

There are no transcripts associated with this gene.

Gene

MIR6847

Gene Name

microRNA 6847

There are no transcripts associated with this gene.

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