Product Details

SNP ID

rs142360679

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:68158164 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATTCTCTTGGTCATTTGTTTTGC[G/T]GCTGCTATCATGACGCCTACGAAGA

Phenotype

MIM: 610881

Polymorphism

G/T, Transversion 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	2534	Missense Mutation	AGC,CGC	S556R	NP_001287836.1
NM_001300908.1	2534	Missense Mutation	AGC,CGC	S488R	NP_001287837.1
NM_001300909.1	2534	Intron			NP_001287838.1
NM_016028.4	2534	Intron			NP_057112.3
NM_017635.4	2534	Missense Mutation	AGC,CGC	S728R	NP_060105.3
XM_005274035.3	2534	Missense Mutation	AGC,CGC	S728R	XP_005274092.2
XM_005274036.3	2534	Missense Mutation	AGC,CGC	S705R	XP_005274093.2
XM_006718581.1	2534	Missense Mutation	AGC,CGC	S705R	XP_006718644.1
XM_011545091.1	2534	Missense Mutation	AGC,CGC	S728R	XP_011543393.1
XM_011545092.2	2534	Missense Mutation	AGC,CGC	S657R	XP_011543394.1
XM_011545093.2	2534	Missense Mutation	AGC,CGC	S314R	XP_011543395.1
XM_011545094.2	2534	Intron			XP_011543396.1
XM_017017876.1	2534	Missense Mutation	AGC,CGC	S556R	XP_016873365.1
XM_017017877.1	2534	Missense Mutation	AGC,CGC	S556R	XP_016873366.1
XM_017017878.1	2534	Missense Mutation	AGC,CGC	S556R	XP_016873367.1
XM_017017879.1	2534	Missense Mutation	AGC,CGC	S556R	XP_016873368.1
XM_017017880.1	2534	Intron			XP_016873369.1

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