Product Details

SNP ID

rs1049932

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:11056694 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAACCGTCACCCACATGTAGGGTCA[C/G]CTTCGAGCTAGAGTAGCCAATGGCC

Phenotype

MIM: 605960 MIM: 605102 MIM: 182891

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

MASP2

Gene Name

mannan binding lectin serine peptidase 2

There are no transcripts associated with this gene.

Gene

SRM

Gene Name

spermidine synthase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003132.2	536	Missense Mutation	CTG,GTG	L149V	NP_003123.2
XM_017002179.1	536	Missense Mutation	CTG,GTG	L149V	XP_016857668.1

View Full Product Details