Product Details

SNP ID

rs148090404

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:32447760 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTGCTGGTGCTGGAGGGGGTGG[A/G]CGTGGGGGTGGTGGAGGTGGTAGAG

Phenotype

MIM: 612990

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ASXL1 PubMed Links

Gene Details

Gene

ASXL1

Gene Name

additional sex combs like 1, transcriptional regulator

There are no transcripts associated with this gene.

Gene

NOL4L

Gene Name

nucleolar protein 4 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256798.1	2348	Missense Mutation	CCC,TCC	P627S	NP_001243727.1
NM_080616.4	2348	Missense Mutation	CCC,TCC	P383S	NP_542183.2
XM_005260282.4	2348	Missense Mutation	CCC,TCC	P492S	XP_005260339.1
XM_005260283.4	2348	Missense Mutation	CCC,TCC	P492S	XP_005260340.1
XM_005260284.4	2348	Missense Mutation	CCC,TCC	P492S	XP_005260341.1
XM_005260285.4	2348	Missense Mutation	CCC,TCC	P549S	XP_005260342.2
XM_005260286.4	2348	Missense Mutation	CCC,TCC	P492S	XP_005260343.1
XM_005260288.2	2348	Missense Mutation	CCC,TCC	P383S	XP_005260345.1
XM_005260289.4	2348	Missense Mutation	CCC,TCC	P383S	XP_005260346.1
XM_006723702.3	2348	Missense Mutation	CCC,TCC	P492S	XP_006723765.1
XM_006723703.3	2348	Missense Mutation	CCC,TCC	P492S	XP_006723766.1
XM_011528562.2	2348	UTR 3			XP_011526864.1
XM_011528563.1	2348	UTR 3			XP_011526865.1
XM_017027669.1	2348	Missense Mutation	CCC,TCC	P383S	XP_016883158.1
XM_017027670.1	2348	UTR 3			XP_016883159.1

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