Product Details

SNP ID

rs144559086

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:11108251 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGATGAGCAGCTCAACTTGCGTTG[C/G]AACATCCAAAGTGTCATCATGAGAG

Phenotype

MIM: 605960 MIM: 601231

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

EXOSC10 PubMed Links

Gene Details

Gene

EXOSC10

Gene Name

exosome component 10

There are no transcripts associated with this gene.

Gene

LOC105376736

Gene Name

uncharacterized LOC105376736

There are no transcripts associated with this gene.

Gene

MTOR

Gene Name

mechanistic target of rapamycin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004958.3	7148	Missense Mutation	CCA,GCA	P2522A	NP_004949.1
XM_005263438.2	7148	Missense Mutation	CCA,GCA	P2522A	XP_005263495.1
XM_011541166.2	7148	Intron			XP_011539468.1
XM_017000900.1	7148	Missense Mutation	CCA,GCA	P2295A	XP_016856389.1
XM_017000901.1	7148	Missense Mutation	CCA,GCA	P2106A	XP_016856390.1
XM_017000902.1	7148	Intron			XP_016856391.1

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