Product Details

SNP ID
rs151211217
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:210023013 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTTTTGTATTCTTCCATTCCATCT[A/G]ACTGCTTTTTTGGATGGTGGCCATT
Phenotype
MIM: 613833 MIM: 180480
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
KANSL1L PubMed Links

Gene Details

Gene
KANSL1L
Gene Name
KAT8 regulatory NSL complex subunit 1 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001307976.1 3953 Missense Mutation TCA,TTA S925L NP_001294905.1
NM_152519.3 3953 Missense Mutation TCA,TTA S967L NP_689732.2
XM_005246328.4 3953 Missense Mutation TCA,TTA S1000L XP_005246385.1
XM_005246329.4 3953 Missense Mutation TCA,TTA S967L XP_005246386.1
XM_005246330.4 3953 Missense Mutation TCA,TTA S967L XP_005246387.1
XM_005246332.4 3953 Missense Mutation TCA,TTA S958L XP_005246389.1
XM_005246334.4 3953 Intron XP_005246391.1
XM_006712320.3 3953 Intron XP_006712383.1
XM_011510706.2 3953 Missense Mutation TCA,TTA S967L XP_011509008.1
XM_011510707.2 3953 Missense Mutation TCA,TTA S967L XP_011509009.1
XM_011510709.2 3953 Intron XP_011509011.1
XM_011510710.2 3953 Missense Mutation TCA,TTA S539L XP_011509012.1
XM_017003430.1 3953 Missense Mutation TCA,TTA S967L XP_016858919.1
XM_017003431.1 3953 Missense Mutation TCA,TTA S494L XP_016858920.1
Gene
LOC101928020
Gene Name
uncharacterized LOC101928020
There are no transcripts associated with this gene.

Gene
RPE
Gene Name
ribulose-5-phosphate-3-epimerase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278282.1 3953 Intron NP_001265211.1
NM_001278283.1 3953 Intron NP_001265212.1
NM_001278285.1 3953 Intron NP_001265214.1
NM_001278286.1 3953 Intron NP_001265215.1
NM_001278288.1 3953 Intron NP_001265217.1
NM_001278289.1 3953 Intron NP_001265218.1
NM_001318926.1 3953 Intron NP_001305855.1
NM_001318927.1 3953 Intron NP_001305856.1
NM_001318928.1 3953 Intron NP_001305857.1
NM_001318929.1 3953 Intron NP_001305858.1
NM_001318930.1 3953 Intron NP_001305859.1
NM_001318931.1 3953 Intron NP_001305860.1
NM_006916.2 3953 Intron NP_008847.1
NM_199229.2 3953 Intron NP_954699.1
XM_006712677.3 3953 UTR 3 XP_006712740.1

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