Product Details

SNP ID

rs145888264

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:68157843 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATCATAGTCATCCTCCTCTTCAT[C/T]GCCCTCAGAAGAGGAGGAATCATCT

Phenotype

MIM: 610881

Polymorphism

C/T, 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	2855	Missense Mutation	AAT,GAT	N663D	NP_001287836.1
NM_001300908.1	2855	Missense Mutation	AAT,GAT	N595D	NP_001287837.1
NM_001300909.1	2855	Intron			NP_001287838.1
NM_016028.4	2855	Intron			NP_057112.3
NM_017635.4	2855	Missense Mutation	AAT,GAT	N835D	NP_060105.3
XM_005274035.3	2855	Missense Mutation	AAT,GAT	N835D	XP_005274092.2
XM_005274036.3	2855	Missense Mutation	AAT,GAT	N812D	XP_005274093.2
XM_006718581.1	2855	Missense Mutation	AAT,GAT	N812D	XP_006718644.1
XM_011545091.1	2855	Missense Mutation	AAT,GAT	N835D	XP_011543393.1
XM_011545092.2	2855	Missense Mutation	AAT,GAT	N764D	XP_011543394.1
XM_011545093.2	2855	Missense Mutation	AAT,GAT	N421D	XP_011543395.1
XM_011545094.2	2855	Intron			XP_011543396.1
XM_017017876.1	2855	Missense Mutation	AAT,GAT	N663D	XP_016873365.1
XM_017017877.1	2855	Missense Mutation	AAT,GAT	N663D	XP_016873366.1
XM_017017878.1	2855	Missense Mutation	AAT,GAT	N663D	XP_016873367.1
XM_017017879.1	2855	Missense Mutation	AAT,GAT	N663D	XP_016873368.1
XM_017017880.1	2855	Intron			XP_016873369.1

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