Product Details

SNP ID

rs144045445

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:97431123 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCAACAGCCTCCGGGGCATTGTC[A/G]AGCATCTGGAGGGTATGTATGTTTT

Phenotype

MIM: 606493 MIM: 172250

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EXOSC1 PubMed Links

Gene Details

Gene

EXOSC1

Gene Name

exosome component 1

There are no transcripts associated with this gene.

Gene

LOC644215

Gene Name

uncharacterized LOC644215

There are no transcripts associated with this gene.

Gene

PGAM1

Gene Name

phosphoglycerate mutase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317079.1	696	Missense Mutation	AAG,GAG	K180E	NP_001304008.1
NM_002629.3	696	Intron			NP_002620.1

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