Product Details

SNP ID

rs202244893

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:74843247 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGGCTCCTGGCAGAACTCATCCA[C/T]GAACTCGAGGAAGTGGCCGAACTTG

Phenotype

MIM: 609788

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RNF169 PubMed Links

Gene Details

Gene

RNF169

Gene Name

ring finger protein 169

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098638.1	2402	Intron			NP_001092108.1
XM_011544889.2	2402	Intron			XP_011543191.1

Gene

XRRA1

Gene Name

X-ray radiation resistance associated 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270380.1	2402	UTR 3			NP_001257309.1
NM_001270381.1	2402	Missense Mutation	ATG,GTG	M503V	NP_001257310.1
NM_182969.2	2402	Missense Mutation	ATG,GTG	M778V	NP_892014.1
XM_005273765.2	2402	Missense Mutation	ATG,GTG	M786V	XP_005273822.1
XM_005273770.2	2402	Missense Mutation	ATG,GTG	M545V	XP_005273827.1
XM_011544755.1	2402	Missense Mutation	ATG,GTG	M771V	XP_011543057.1
XM_011544756.1	2402	Missense Mutation	ATG,GTG	M744V	XP_011543058.1
XM_011544757.1	2402	Missense Mutation	ATG,GTG	M729V	XP_011543059.1
XM_011544758.1	2402	Missense Mutation	ATG,GTG	M729V	XP_011543060.1
XM_011544759.1	2402	Missense Mutation	ATG,GTG	M721V	XP_011543061.1
XM_011544760.2	2402	Intron			XP_011543062.1
XM_011544761.1	2402	Missense Mutation	ATG,GTG	M705V	XP_011543063.1
XM_011544762.1	2402	Missense Mutation	ATG,GTG	M699V	XP_011543064.1
XM_011544763.1	2402	UTR 3			XP_011543065.1
XM_011544764.1	2402	Missense Mutation	ATG,GTG	M674V	XP_011543066.1
XM_011544765.1	2402	Missense Mutation	ATG,GTG	M545V	XP_011543067.1
XM_011544766.2	2402	Missense Mutation	ATG,GTG	M623V	XP_011543068.1
XM_011544767.1	2402	Missense Mutation	ATG,GTG	M623V	XP_011543069.1
XM_011544768.1	2402	Missense Mutation	ATG,GTG	M623V	XP_011543070.1
XM_017017221.1	2402	Missense Mutation	ATG,GTG	M716V	XP_016872710.1
XM_017017222.1	2402	UTR 3			XP_016872711.1
XM_017017223.1	2402	UTR 3			XP_016872712.1
XM_017017224.1	2402	UTR 3			XP_016872713.1
XM_017017225.1	2402	UTR 3			XP_016872714.1
XM_017017226.1	2402	Missense Mutation	ATG,GTG	M545V	XP_016872715.1
XM_017017227.1	2402	Missense Mutation	ATG,GTG	M545V	XP_016872716.1
XM_017017228.1	2402	UTR 3			XP_016872717.1
XM_017017229.1	2402	Missense Mutation	ATG,GTG	M488V	XP_016872718.1
XM_017017230.1	2402	Missense Mutation	ATG,GTG	M466V	XP_016872719.1
XM_017017231.1	2402	Missense Mutation	ATG,GTG	M458V	XP_016872720.1
XM_017017232.1	2402	UTR 3			XP_016872721.1
XM_017017233.1	2402	Missense Mutation	ATG,GTG	M401V	XP_016872722.1
XM_017017234.1	2402	Missense Mutation	ATG,GTG	M401V	XP_016872723.1

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