Product Details

SNP ID
rs144996915
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:108896945 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGGCTGGGAGGCAGGTGGCACAA[A/C]CCCCGCCCACTCCAGTATGTCTGCA
Phenotype
MIM: 604095 MIM: 601181
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
EDAR PubMed Links

Gene Details

Gene
EDAR
Gene Name
ectodysplasin A receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022336.3 1599 Missense Mutation GTT,TTT V437F NP_071731.1
XM_006712204.1 1599 Missense Mutation GTT,TTT V469F XP_006712267.1
XM_011510502.2 1599 Missense Mutation GTT,TTT V517F XP_011508804.2
XM_011510503.2 1599 Missense Mutation GTT,TTT V485F XP_011508805.2
Gene
RANBP2
Gene Name
RAN binding protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006267.4 1599 Intron NP_006258.3
XM_005264002.2 1599 Intron XP_005264059.1
XM_005264003.2 1599 Intron XP_005264060.1
XM_005264004.2 1599 Intron XP_005264061.1
XM_005264005.4 1599 Intron XP_005264062.1
XM_005264007.2 1599 Intron XP_005264064.1
XM_011511575.2 1599 Intron XP_011509877.1
XM_011511576.2 1599 Intron XP_011509878.1
XM_011511578.2 1599 Intron XP_011509880.1
XM_017004623.1 1599 Intron XP_016860112.1
XM_017004624.1 1599 Intron XP_016860113.1
XM_017004625.1 1599 Intron XP_016860114.1

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