Product Details

SNP ID

rs201400802

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:68158361 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAGCACAGTCTGTGTAGCTCACA[A/G]GCACGCCCACAGTGCCACTGTGCTC

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	2337	Missense Mutation	CCT,CTT	P490L	NP_001287836.1
NM_001300908.1	2337	Missense Mutation	CCT,CTT	P422L	NP_001287837.1
NM_001300909.1	2337	Intron			NP_001287838.1
NM_016028.4	2337	Intron			NP_057112.3
NM_017635.4	2337	Missense Mutation	CCT,CTT	P662L	NP_060105.3
XM_005274035.3	2337	Missense Mutation	CCT,CTT	P662L	XP_005274092.2
XM_005274036.3	2337	Missense Mutation	CCT,CTT	P639L	XP_005274093.2
XM_006718581.1	2337	Missense Mutation	CCT,CTT	P639L	XP_006718644.1
XM_011545091.1	2337	Missense Mutation	CCT,CTT	P662L	XP_011543393.1
XM_011545092.2	2337	Missense Mutation	CCT,CTT	P591L	XP_011543394.1
XM_011545093.2	2337	Missense Mutation	CCT,CTT	P248L	XP_011543395.1
XM_011545094.2	2337	Intron			XP_011543396.1
XM_017017876.1	2337	Missense Mutation	CCT,CTT	P490L	XP_016873365.1
XM_017017877.1	2337	Missense Mutation	CCT,CTT	P490L	XP_016873366.1
XM_017017878.1	2337	Missense Mutation	CCT,CTT	P490L	XP_016873367.1
XM_017017879.1	2337	Missense Mutation	CCT,CTT	P490L	XP_016873368.1
XM_017017880.1	2337	Intron			XP_016873369.1

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