Product Details

SNP ID

rs200400289

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:68158330 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGATGTCACAACTGAACAACCGAC[A/G]GGTGAAGGAGCACAGTCTGTGTAGC

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	2368	Silent Mutation	CCC,CCT	P500P	NP_001287836.1
NM_001300908.1	2368	Silent Mutation	CCC,CCT	P432P	NP_001287837.1
NM_001300909.1	2368	Intron			NP_001287838.1
NM_016028.4	2368	Intron			NP_057112.3
NM_017635.4	2368	Silent Mutation	CCC,CCT	P672P	NP_060105.3
XM_005274035.3	2368	Silent Mutation	CCC,CCT	P672P	XP_005274092.2
XM_005274036.3	2368	Silent Mutation	CCC,CCT	P649P	XP_005274093.2
XM_006718581.1	2368	Silent Mutation	CCC,CCT	P649P	XP_006718644.1
XM_011545091.1	2368	Silent Mutation	CCC,CCT	P672P	XP_011543393.1
XM_011545092.2	2368	Silent Mutation	CCC,CCT	P601P	XP_011543394.1
XM_011545093.2	2368	Silent Mutation	CCC,CCT	P258P	XP_011543395.1
XM_011545094.2	2368	Intron			XP_011543396.1
XM_017017876.1	2368	Silent Mutation	CCC,CCT	P500P	XP_016873365.1
XM_017017877.1	2368	Silent Mutation	CCC,CCT	P500P	XP_016873366.1
XM_017017878.1	2368	Silent Mutation	CCC,CCT	P500P	XP_016873367.1
XM_017017879.1	2368	Silent Mutation	CCC,CCT	P500P	XP_016873368.1
XM_017017880.1	2368	Intron			XP_016873369.1

View Full Product Details