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SNP ID

rs2293969

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:128818719 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCGGGCCGGCCTGACCCTGGCGT[C/T]GGGCGCGGGGCTGGGTGCGGTCGTC

Phenotype

MIM: 600440 MIM: 616218

Polymorphism

C/T, 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	318	Missense Mutation	TCG,TTG	S12L	NP_004426.2
XM_011518347.2	318	Missense Mutation	TCG,TTG	S101L	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	318	Intron			NP_057474.2
XM_017014804.1	318	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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