Product Details

SNP ID

rs61397314

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:128819108 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCAGTGGCTTCGACCGCGGTCAC[A/C]TGGCCGCCGCCGCCAACCACCGCTG

Phenotype

MIM: 600440 MIM: 616218

Polymorphism

A/C, Transversion 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	707	Missense Mutation	ATG,CTG	M142L	NP_004426.2
XM_011518347.2	707	Missense Mutation	ATG,CTG	M231L	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	707	Intron			NP_057474.2
XM_017014804.1	707	Intron			XP_016870293.1

Gene

TBC1D13

Gene Name

TBC1 domain family member 13

There are no transcripts associated with this gene.

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