Product Details

SNP ID

rs146549090

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:68158087 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTTGCTACATAGAGATTGTTATC[A/G]TTGTCATGGTCTTTGCTTAACTTGA

Phenotype

MIM: 610881

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KMT5B PubMed Links

Gene Details

Gene

KMT5B

Gene Name

lysine methyltransferase 5B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300907.1	2611	Silent Mutation	AAC,AAT	N581N	NP_001287836.1
NM_001300908.1	2611	Silent Mutation	AAC,AAT	N513N	NP_001287837.1
NM_001300909.1	2611	Intron			NP_001287838.1
NM_016028.4	2611	Intron			NP_057112.3
NM_017635.4	2611	Silent Mutation	AAC,AAT	N753N	NP_060105.3
XM_005274035.3	2611	Silent Mutation	AAC,AAT	N753N	XP_005274092.2
XM_005274036.3	2611	Silent Mutation	AAC,AAT	N730N	XP_005274093.2
XM_006718581.1	2611	Silent Mutation	AAC,AAT	N730N	XP_006718644.1
XM_011545091.1	2611	Silent Mutation	AAC,AAT	N753N	XP_011543393.1
XM_011545092.2	2611	Silent Mutation	AAC,AAT	N682N	XP_011543394.1
XM_011545093.2	2611	Silent Mutation	AAC,AAT	N339N	XP_011543395.1
XM_011545094.2	2611	Intron			XP_011543396.1
XM_017017876.1	2611	Silent Mutation	AAC,AAT	N581N	XP_016873365.1
XM_017017877.1	2611	Silent Mutation	AAC,AAT	N581N	XP_016873366.1
XM_017017878.1	2611	Silent Mutation	AAC,AAT	N581N	XP_016873367.1
XM_017017879.1	2611	Silent Mutation	AAC,AAT	N581N	XP_016873368.1
XM_017017880.1	2611	Intron			XP_016873369.1

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