Product Details

SNP ID

rs201094763

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:105112271 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAACTTTTATCCAGCAGCACAGAA[C/T]CTTCCAGCCAATACTCAGCAGGCAA

Phenotype

MIM: 608444 MIM: 602980

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KMT2E PubMed Links

Gene Details

Gene

KMT2E

Gene Name

lysine methyltransferase 2E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018682.3	4968	Silent Mutation	AAC,AAT	N1505N	NP_061152.3
NM_182931.2	4968	Silent Mutation	AAC,AAT	N1505N	NP_891847.1
XM_005250493.1	4968	Silent Mutation	AAC,AAT	N1505N	XP_005250550.1
XM_011516400.1	4968	Silent Mutation	AAC,AAT	N1505N	XP_011514702.1
XM_017012435.1	4968	Silent Mutation	AAC,AAT	N1359N	XP_016867924.1

Gene

SRPK2

Gene Name

SRSF protein kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278273.1	4968	Intron			NP_001265202.1
NM_182691.2	4968	Intron			NP_872633.1
NM_182692.2	4968	Intron			NP_872634.1
XM_005250549.3	4968	Intron			XP_005250606.2
XM_005250550.3	4968	Intron			XP_005250607.1
XM_005250551.4	4968	Intron			XP_005250608.1
XM_006716098.2	4968	Intron			XP_006716161.1
XM_011516536.2	4968	Intron			XP_011514838.1
XM_011516538.2	4968	Intron			XP_011514840.1
XM_017012560.1	4968	Intron			XP_016868049.1
XM_017012561.1	4968	Intron			XP_016868050.1
XM_017012562.1	4968	Intron			XP_016868051.1
XM_017012563.1	4968	Intron			XP_016868052.1
XM_017012564.1	4968	Intron			XP_016868053.1
XM_017012565.1	4968	Intron			XP_016868054.1
XM_017012566.1	4968	Intron			XP_016868055.1

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