Product Details

SNP ID

rs144458991

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:68158079 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTATTAAGCTTTGCTACATAGAGA[C/T]TGTTATCGTTGTCATGGTCTTTGCT

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	2619	Missense Mutation	AAT,AGT	N584S	NP_001287836.1
NM_001300908.1	2619	Missense Mutation	AAT,AGT	N516S	NP_001287837.1
NM_001300909.1	2619	Intron			NP_001287838.1
NM_016028.4	2619	Intron			NP_057112.3
NM_017635.4	2619	Missense Mutation	AAT,AGT	N756S	NP_060105.3
XM_005274035.3	2619	Missense Mutation	AAT,AGT	N756S	XP_005274092.2
XM_005274036.3	2619	Missense Mutation	AAT,AGT	N733S	XP_005274093.2
XM_006718581.1	2619	Missense Mutation	AAT,AGT	N733S	XP_006718644.1
XM_011545091.1	2619	Missense Mutation	AAT,AGT	N756S	XP_011543393.1
XM_011545092.2	2619	Missense Mutation	AAT,AGT	N685S	XP_011543394.1
XM_011545093.2	2619	Missense Mutation	AAT,AGT	N342S	XP_011543395.1
XM_011545094.2	2619	Intron			XP_011543396.1
XM_017017876.1	2619	Missense Mutation	AAT,AGT	N584S	XP_016873365.1
XM_017017877.1	2619	Missense Mutation	AAT,AGT	N584S	XP_016873366.1
XM_017017878.1	2619	Missense Mutation	AAT,AGT	N584S	XP_016873367.1
XM_017017879.1	2619	Missense Mutation	AAT,AGT	N584S	XP_016873368.1
XM_017017880.1	2619	Intron			XP_016873369.1

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