Product Details

SNP ID

rs150986690

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:66599652 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTGTGGACCCAGTGGGAGTGGCT[C/T]TCTGAGGTGCAGGAGGCCATGGTAA

Phenotype

MIM: 300276

Polymorphism

C/T, Transition 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	897	Silent Mutation	GAA,GAG	E242E	NP_001186616.1
NM_001242310.1	897	Silent Mutation	GAA,GAG	E263E	NP_001229239.1
NM_001324199.1	897	Silent Mutation	GAA,GAG	E118E	NP_001311128.1
NM_001324201.1	897	Silent Mutation	GAA,GAG	E210E	NP_001311130.1
NM_001324202.1	897	Intron			NP_001311131.1
NM_001324204.1	897	Intron			NP_001311133.1
NM_001324205.1	897	Intron			NP_001311134.1
NM_001324206.1	897	Silent Mutation	GAA,GAG	E244E	NP_001311135.1
NM_021783.4	897	Silent Mutation	GAA,GAG	E242E	NP_068555.1
XM_011531000.1	897	Silent Mutation	GAA,GAG	E263E	XP_011529302.1
XM_011531001.1	897	Silent Mutation	GAA,GAG	E263E	XP_011529303.1
XM_011531002.1	897	Intron			XP_011529304.1
XM_011531003.2	897	Silent Mutation	GAA,GAG	E183E	XP_011529305.1
XM_011531004.1	897	Intron			XP_011529306.1
XM_011531005.2	897	Silent Mutation	GAA,GAG	E118E	XP_011529307.1
XM_011531006.2	897	Intron			XP_011529308.1
XM_011531007.2	897	Intron			XP_011529309.1
XM_017029703.1	897	Silent Mutation	GAA,GAG	E210E	XP_016885192.1
XM_017029704.1	897	Intron			XP_016885193.1
XM_017029705.1	897	Silent Mutation	GAA,GAG	E164E	XP_016885194.1
XM_017029706.1	897	Intron			XP_016885195.1
XM_017029707.1	897	Silent Mutation	GAA,GAG	E139E	XP_016885196.1
XM_017029708.1	897	Intron			XP_016885197.1

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