Product Details

SNP ID

rs200719065

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:46031651 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCATCCAGCTGGTCCTCACACTCC[A/G]CCTGGGGACTGTGCGCCAGGGGGAA

Phenotype

MIM: 612452 MIM: 157140

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KANSL1 PubMed Links

Gene Details

Gene

KANSL1

Gene Name

KAT8 regulatory NSL complex subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193465.1	2010	Missense Mutation	GCG,GTG	A1047V	NP_001180394.1
NM_001193466.1	2010	Missense Mutation	GCG,GTG	A1048V	NP_001180395.1
NM_015443.3	2010	Missense Mutation	GCG,GTG	A1048V	NP_056258.1
XM_006721823.1	2010	Missense Mutation	GCG,GTG	A1048V	XP_006721886.1
XM_006721824.3	2010	Missense Mutation	GCG,GTG	A1048V	XP_006721887.1
XM_011524628.2	2010	Missense Mutation	GCG,GTG	A1047V	XP_011522930.1
XM_011524629.2	2010	Missense Mutation	GCG,GTG	A1014V	XP_011522931.1
XM_011524630.2	2010	Missense Mutation	GCG,GTG	A985V	XP_011522932.1
XM_011524631.2	2010	Missense Mutation	GCG,GTG	A984V	XP_011522933.1
XM_011524632.2	2010	Missense Mutation	GCG,GTG	A638V	XP_011522934.1
XM_017024488.1	2010	Missense Mutation	GCG,GTG	A984V	XP_016879977.1
XM_017024489.1	2010	Intron			XP_016879978.1

Gene

MAPT

Gene Name

microtubule associated protein tau

There are no transcripts associated with this gene.

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