Product Details

SNP ID

rs149758385

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:66599684 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCAGGAGGCCATGGTAAAGGACT[A/C]CTGTGTGGGGAAGCCACTAGTCGAG

Phenotype

MIM: 300276

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

EDA2R PubMed Links

Gene Details

Gene

EDA2R

Gene Name

ectodysplasin A2 receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199687.2	865	Nonsense Mutation	GAG,TAG	E232*	NP_001186616.1
NM_001242310.1	865	Nonsense Mutation	GAG,TAG	E253*	NP_001229239.1
NM_001324199.1	865	Nonsense Mutation	GAG,TAG	E108*	NP_001311128.1
NM_001324201.1	865	Nonsense Mutation	GAG,TAG	E200*	NP_001311130.1
NM_001324202.1	865	Intron			NP_001311131.1
NM_001324204.1	865	Intron			NP_001311133.1
NM_001324205.1	865	Intron			NP_001311134.1
NM_001324206.1	865	Nonsense Mutation	GAG,TAG	E234*	NP_001311135.1
NM_021783.4	865	Nonsense Mutation	GAG,TAG	E232*	NP_068555.1
XM_011531000.1	865	Nonsense Mutation	GAG,TAG	E253*	XP_011529302.1
XM_011531001.1	865	Nonsense Mutation	GAG,TAG	E253*	XP_011529303.1
XM_011531002.1	865	Intron			XP_011529304.1
XM_011531003.2	865	Nonsense Mutation	GAG,TAG	E173*	XP_011529305.1
XM_011531004.1	865	Intron			XP_011529306.1
XM_011531005.2	865	Nonsense Mutation	GAG,TAG	E108*	XP_011529307.1
XM_011531006.2	865	Intron			XP_011529308.1
XM_011531007.2	865	Intron			XP_011529309.1
XM_017029703.1	865	Nonsense Mutation	GAG,TAG	E200*	XP_016885192.1
XM_017029704.1	865	Intron			XP_016885193.1
XM_017029705.1	865	Nonsense Mutation	GAG,TAG	E154*	XP_016885194.1
XM_017029706.1	865	Intron			XP_016885195.1
XM_017029707.1	865	Nonsense Mutation	GAG,TAG	E129*	XP_016885196.1
XM_017029708.1	865	Intron			XP_016885197.1

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