Product Details

SNP ID

rs10171700

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:108895673 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCACCTGAACCCTACCTGCCCCAA[C/T]TATAGAATCACTAACTAACATCTCA

Phenotype

MIM: 604095 MIM: 601181

Polymorphism

C/T, Transition 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	2871	UTR 3			NP_071731.1
XM_006712204.1	2871	UTR 3			XP_006712267.1
XM_011510502.2	2871	UTR 3			XP_011508804.2
XM_011510503.2	2871	UTR 3			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	2871	Intron			NP_006258.3
XM_005264002.2	2871	Intron			XP_005264059.1
XM_005264003.2	2871	Intron			XP_005264060.1
XM_005264004.2	2871	Intron			XP_005264061.1
XM_005264005.4	2871	Intron			XP_005264062.1
XM_005264007.2	2871	Intron			XP_005264064.1
XM_011511575.2	2871	Intron			XP_011509877.1
XM_011511576.2	2871	Intron			XP_011509878.1
XM_011511578.2	2871	Intron			XP_011509880.1
XM_017004623.1	2871	Intron			XP_016860112.1
XM_017004624.1	2871	Intron			XP_016860113.1
XM_017004625.1	2871	Intron			XP_016860114.1

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