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SNP ID: rs202165710
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:36893060 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGTGTTATGAGTGGGGCTATAACAT[C/T]GCCATCCTATTAGGAAGAGAGAGAA
Phenotype: MIM: 606754
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: SAMHD1 PubMed Links

Gene Details

Gene: SAMHD1
Gene Name: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015474.3	1821	Missense Mutation	AAT,GAT	N585D	NP_056289.2
XM_005260384.3	1821	Missense Mutation	AAT,GAT	N550D	XP_005260441.1
XM_011528761.2	1821	UTR 3			XP_011527063.1

Gene: TLDC2
Gene Name: TBC/LysM-associated domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304783.1	1821	UTR 3			NP_001291712.1
NM_080628.2	1821	UTR 3			NP_542195.1
XM_017027672.1	1821	Intron			XP_016883161.1
XM_017027673.1	1821	Intron			XP_016883162.1
XM_017027674.1	1821	Intron			XP_016883163.1

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