Product Details

SNP ID
rs7220988
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:46032108 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GGTATCCTCACTGGCTAAGTGTCGC[A/G]GAGTGTCCCGAGCCACAGGGGTGAG
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 1896 Missense Mutation CCG,CTG P1009L NP_001180394.1
NM_001193466.1 1896 Missense Mutation CCG,CTG P1010L NP_001180395.1
NM_015443.3 1896 Missense Mutation CCG,CTG P1010L NP_056258.1
XM_006721823.1 1896 Missense Mutation CCG,CTG P1010L XP_006721886.1
XM_006721824.3 1896 Missense Mutation CCG,CTG P1010L XP_006721887.1
XM_011524628.2 1896 Missense Mutation CCG,CTG P1009L XP_011522930.1
XM_011524629.2 1896 Missense Mutation CCG,CTG P976L XP_011522931.1
XM_011524630.2 1896 Missense Mutation CCG,CTG P947L XP_011522932.1
XM_011524631.2 1896 Missense Mutation CCG,CTG P946L XP_011522933.1
XM_011524632.2 1896 Missense Mutation CCG,CTG P600L XP_011522934.1
XM_017024488.1 1896 Missense Mutation CCG,CTG P946L XP_016879977.1
XM_017024489.1 1896 Intron XP_016879978.1
Gene
MAPT
Gene Name
microtubule associated protein tau
There are no transcripts associated with this gene.

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