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.
View Full Product Details