Product Details

SNP ID

rs200742172

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:210024081 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGAAGGTAAGCCATATGCACACAG[A/T]TCCTGGTTCTCTGAAGGAAGCCCAG

Phenotype

MIM: 613833 MIM: 180480

Polymorphism

A/T, Transversion 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	5021	Missense Mutation	GAA,GAT	E853D	NP_001294905.1
NM_152519.3	5021	Missense Mutation	GAA,GAT	E895D	NP_689732.2
XM_005246328.4	5021	Missense Mutation	GAA,GAT	E928D	XP_005246385.1
XM_005246329.4	5021	Missense Mutation	GAA,GAT	E895D	XP_005246386.1
XM_005246330.4	5021	Missense Mutation	GAA,GAT	E895D	XP_005246387.1
XM_005246332.4	5021	Missense Mutation	GAA,GAT	E886D	XP_005246389.1
XM_005246334.4	5021	Intron			XP_005246391.1
XM_006712320.3	5021	Intron			XP_006712383.1
XM_011510706.2	5021	Missense Mutation	GAA,GAT	E895D	XP_011509008.1
XM_011510707.2	5021	Missense Mutation	GAA,GAT	E895D	XP_011509009.1
XM_011510709.2	5021	Intron			XP_011509011.1
XM_011510710.2	5021	Missense Mutation	GAA,GAT	E467D	XP_011509012.1
XM_017003430.1	5021	Missense Mutation	GAA,GAT	E895D	XP_016858919.1
XM_017003431.1	5021	Missense Mutation	GAA,GAT	E422D	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	5021	Intron			NP_001265211.1
NM_001278283.1	5021	Intron			NP_001265212.1
NM_001278285.1	5021	Intron			NP_001265214.1
NM_001278286.1	5021	Intron			NP_001265215.1
NM_001278288.1	5021	Intron			NP_001265217.1
NM_001278289.1	5021	Intron			NP_001265218.1
NM_001318926.1	5021	Intron			NP_001305855.1
NM_001318927.1	5021	Intron			NP_001305856.1
NM_001318928.1	5021	Intron			NP_001305857.1
NM_001318929.1	5021	Intron			NP_001305858.1
NM_001318930.1	5021	Intron			NP_001305859.1
NM_001318931.1	5021	Intron			NP_001305860.1
NM_006916.2	5021	Intron			NP_008847.1
NM_199229.2	5021	Intron			NP_954699.1
XM_006712677.3	5021	UTR 3			XP_006712740.1

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