Product Details

SNP ID

rs112938330

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:155339366 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTGTAGTTGTCTGGGACGTAATG[A/G]GGCTGCAGAGAAGAAAAGGAAGAGG

Phenotype

MIM: 607999

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ASH1L PubMed Links

Gene Details

Gene

ASH1L

Gene Name

ASH1 like histone lysine methyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018489.2	3438	Silent Mutation	CCC,CCT	P2821P	NP_060959.2
XM_005245337.4	3438	Intron			XP_005245394.1
XM_006711450.3	3438	Silent Mutation	CCC,CCT	P2821P	XP_006711513.1
XM_006711451.3	3438	Silent Mutation	CCC,CCT	P2821P	XP_006711514.1
XM_006711452.3	3438	Silent Mutation	CCC,CCT	P2761P	XP_006711515.1
XM_011509769.2	3438	Intron			XP_011508071.1
XM_011509770.2	3438	Silent Mutation	CCC,CCT	P1101P	XP_011508072.1
XM_017001784.1	3438	Silent Mutation	CCC,CCT	P2821P	XP_016857273.1
XM_017001785.1	3438	Silent Mutation	CCC,CCT	P2821P	XP_016857274.1
XM_017001786.1	3438	Intron			XP_016857275.1
XM_017001787.1	3438	Intron			XP_016857276.1
XM_017001788.1	3438	Silent Mutation	CCC,CCT	P1101P	XP_016857277.1

Gene

MIR555

Gene Name

microRNA 555

There are no transcripts associated with this gene.

Gene

RUSC1

Gene Name

RUN and SH3 domain containing 1

There are no transcripts associated with this gene.

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