Product Details

SNP ID

rs188345683

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:45999655 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGGGTGAGAGTCAGGCGACCTCA[C/T]GCCAAGTGTAGAAAGGGGCAGATGG

Phenotype

MIM: 157140 MIM: 607067

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAPT PubMed Links

Gene Details

Gene

MAPT

Gene Name

microtubule associated protein tau

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001123066.3	406	Intron			NP_001116538.2
NM_001123067.3	406	Intron			NP_001116539.1
NM_001203251.1	406	Intron			NP_001190180.1
NM_001203252.1	406	Intron			NP_001190181.1
NM_005910.5	406	Intron			NP_005901.2
NM_016834.4	406	Intron			NP_058518.1
NM_016835.4	406	Intron			NP_058519.3
NM_016841.4	406	Intron			NP_058525.1
XM_005257362.4	406	Intron			XP_005257419.1
XM_005257364.4	406	Intron			XP_005257421.1
XM_005257365.4	406	Intron			XP_005257422.1
XM_005257366.3	406	Intron			XP_005257423.1
XM_005257367.4	406	Intron			XP_005257424.1
XM_005257368.4	406	Intron			XP_005257425.1
XM_005257369.4	406	Intron			XP_005257426.1
XM_005257370.4	406	Intron			XP_005257427.1
XM_005257371.4	406	Intron			XP_005257428.1

Gene

STH

Gene Name

saitohin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001007532.2	406	Missense Mutation	CGC,TGC	R126C	NP_001007533.1

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