Product Details

SNP ID

rs200384262

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:45999662 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAGTCAGGCGACCTCATGCCAAG[C/T]GTAGAAAGGGGCAGATGGGAGCCCC

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	413	Intron			NP_001116538.2
NM_001123067.3	413	Intron			NP_001116539.1
NM_001203251.1	413	Intron			NP_001190180.1
NM_001203252.1	413	Intron			NP_001190181.1
NM_005910.5	413	Intron			NP_005901.2
NM_016834.4	413	Intron			NP_058518.1
NM_016835.4	413	Intron			NP_058519.3
NM_016841.4	413	Intron			NP_058525.1
XM_005257362.4	413	Intron			XP_005257419.1
XM_005257364.4	413	Intron			XP_005257421.1
XM_005257365.4	413	Intron			XP_005257422.1
XM_005257366.3	413	Intron			XP_005257423.1
XM_005257367.4	413	Intron			XP_005257424.1
XM_005257368.4	413	Intron			XP_005257425.1
XM_005257369.4	413	Intron			XP_005257426.1
XM_005257370.4	413	Intron			XP_005257427.1
XM_005257371.4	413	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	413	Missense Mutation	GCG,GTG	A128V	NP_001007533.1

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