Product Details

SNP ID

rs116714293

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:128820820 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCCGCAGCTACCAAAACGTCTAT[A/G]TCTGCACAGGGCCACTCTTCCTGCC

Phenotype

MIM: 600440

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ENDOG PubMed Links

Gene Details

Gene

ENDOG

Gene Name

endonuclease G

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004435.2	3117	Missense Mutation	ATC,GTC	I195V	NP_004426.2
XM_011518347.2	3117	Missense Mutation	ATC,GTC	I284V	XP_011516649.1

Gene

SPOUT1

Gene Name

SPOUT domain containing methyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016390.3	3117	UTR 3			NP_057474.2
XM_017014804.1	3117	UTR 3			XP_016870293.1

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