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SNP ID

rs149082475

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:11069593 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTTGAAGTCTGACTGGCTGTAGTC[A/G]TAAGGCGTAAACTCTTTTTCTGGTG

Phenotype

MIM: 605960 MIM: 182891

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EXOSC10 PubMed Links

Gene Details

Gene

EXOSC10

Gene Name

exosome component 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001998.2	2533	Silent Mutation	TAA,TAG	*818*	NP_001001998.1
NM_002685.3	2533	Silent Mutation	TAA,TAG	*793*	NP_002676.1
XM_005263475.2	2533	Nonsense Mutation	TAA,TAG	*823*	XP_005263532.2
XM_017001494.1	2533	Silent Mutation	TAA,TAG	*407*	XP_016856983.1
XM_017001495.1	2533	Silent Mutation	TAA,TAG	*402*	XP_016856984.1
XM_017001496.1	2533	Silent Mutation	TAA,TAG	*391*	XP_016856985.1
XM_017001497.1	2533	Silent Mutation	TAA,TAG	*386*	XP_016856986.1

Gene

SRM

Gene Name

spermidine synthase

There are no transcripts associated with this gene.

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