Product Details

SNP ID

rs113420599

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:74843877 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTAGTGGAGCCTCTGTAATGTTC[C/T]GGGGATCCCGCAAGCGAATGAAGAT

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

There are no transcripts associated with this gene.

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	2172	Intron			NP_001257309.1
NM_001270381.1	2172	Missense Mutation	CCG,CTG	P426L	NP_001257310.1
NM_182969.2	2172	Missense Mutation	CCG,CTG	P701L	NP_892014.1
XM_005273765.2	2172	Missense Mutation	CCG,CTG	P709L	XP_005273822.1
XM_005273770.2	2172	Missense Mutation	CCG,CTG	P468L	XP_005273827.1
XM_011544755.1	2172	Missense Mutation	CCG,CTG	P694L	XP_011543057.1
XM_011544756.1	2172	Missense Mutation	CCG,CTG	P667L	XP_011543058.1
XM_011544757.1	2172	Missense Mutation	CCG,CTG	P652L	XP_011543059.1
XM_011544758.1	2172	Missense Mutation	CCG,CTG	P652L	XP_011543060.1
XM_011544759.1	2172	Missense Mutation	CCG,CTG	P644L	XP_011543061.1
XM_011544760.2	2172	Missense Mutation	CCG,CTG	P709L	XP_011543062.1
XM_011544761.1	2172	Missense Mutation	CCG,CTG	P628L	XP_011543063.1
XM_011544762.1	2172	Missense Mutation	CCG,CTG	P622L	XP_011543064.1
XM_011544763.1	2172	Intron			XP_011543065.1
XM_011544764.1	2172	Missense Mutation	CCG,CTG	P597L	XP_011543066.1
XM_011544765.1	2172	Missense Mutation	CCG,CTG	P468L	XP_011543067.1
XM_011544766.2	2172	Missense Mutation	CCG,CTG	P546L	XP_011543068.1
XM_011544767.1	2172	Missense Mutation	CCG,CTG	P546L	XP_011543069.1
XM_011544768.1	2172	Missense Mutation	CCG,CTG	P546L	XP_011543070.1
XM_017017221.1	2172	Missense Mutation	CCG,CTG	P639L	XP_016872710.1
XM_017017222.1	2172	Intron			XP_016872711.1
XM_017017223.1	2172	Intron			XP_016872712.1
XM_017017224.1	2172	Intron			XP_016872713.1
XM_017017225.1	2172	Intron			XP_016872714.1
XM_017017226.1	2172	Missense Mutation	CCG,CTG	P468L	XP_016872715.1
XM_017017227.1	2172	Missense Mutation	CCG,CTG	P468L	XP_016872716.1
XM_017017228.1	2172	Intron			XP_016872717.1
XM_017017229.1	2172	Missense Mutation	CCG,CTG	P411L	XP_016872718.1
XM_017017230.1	2172	Missense Mutation	CCG,CTG	P389L	XP_016872719.1
XM_017017231.1	2172	Missense Mutation	CCG,CTG	P381L	XP_016872720.1
XM_017017232.1	2172	Intron			XP_016872721.1
XM_017017233.1	2172	Missense Mutation	CCG,CTG	P324L	XP_016872722.1
XM_017017234.1	2172	Missense Mutation	CCG,CTG	P324L	XP_016872723.1

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