Product Details

SNP ID

rs6058696

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:32444483 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATAGGGATGGATGGGTTCCACCTGT[C/T]TGAAATCCTCGAAAACCCTCCTAAC

Phenotype

MIM: 612990

Polymorphism

C/T, 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	4678	UTR 3			NP_001243727.1
NM_080616.4	4678	UTR 3			NP_542183.2
XM_005260282.4	4678	Intron			XP_005260339.1
XM_005260283.4	4678	Intron			XP_005260340.1
XM_005260284.4	4678	Intron			XP_005260341.1
XM_005260285.4	4678	Intron			XP_005260342.2
XM_005260286.4	4678	Intron			XP_005260343.1
XM_005260288.2	4678	Intron			XP_005260345.1
XM_005260289.4	4678	Intron			XP_005260346.1
XM_006723702.3	4678	Intron			XP_006723765.1
XM_006723703.3	4678	Intron			XP_006723766.1
XM_011528562.2	4678	Intron			XP_011526864.1
XM_011528563.1	4678	Intron			XP_011526865.1
XM_017027669.1	4678	Intron			XP_016883158.1
XM_017027670.1	4678	Intron			XP_016883159.1

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