Product Details

SNP ID

rs132630310

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:69616375 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAGCGCCGCGGGAGCGAGGGAGC[C/T]AGGGCTGCGGGTGTGGCGGGGCCCC

Phenotype

MIM: 300451

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EDA PubMed Links

Gene Details

Gene

EDA

Gene Name

ectodysplasin A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005609.1	290	Nonsense Mutation	CAG,TAG	Q23*	NP_001005609.1
NM_001005610.3	290	Nonsense Mutation	CAG,TAG	Q23*	NP_001005610.2
NM_001005612.2	290	Nonsense Mutation	CAG,TAG	Q23*	NP_001005612.2
NM_001005613.3	290	Nonsense Mutation	CAG,TAG	Q23*	NP_001005613.1
NM_001399.4	290	Nonsense Mutation	CAG,TAG	Q23*	NP_001390.1
XM_006724630.2	290	Nonsense Mutation	CAG,TAG	Q23*	XP_006724693.1
XM_011530885.2	290	Nonsense Mutation	CAG,TAG	Q23*	XP_011529187.1
XM_017029336.1	290	Nonsense Mutation	CAG,TAG	Q23*	XP_016884825.1
XM_017029337.1	290	Nonsense Mutation	CAG,TAG	Q23*	XP_016884826.1

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