Product Details

SNP ID

rs138240281

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:68158396 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTGCCACTGTGCTCACCCTGGTC[A/C]GAATGGGGACCCATCAAATCTGGTA

Phenotype

MIM: 610881

Polymorphism

A/C, 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	2302	Silent Mutation	TCG,TCT	S478S	NP_001287836.1
NM_001300908.1	2302	Silent Mutation	TCG,TCT	S410S	NP_001287837.1
NM_001300909.1	2302	Intron			NP_001287838.1
NM_016028.4	2302	Intron			NP_057112.3
NM_017635.4	2302	Silent Mutation	TCG,TCT	S650S	NP_060105.3
XM_005274035.3	2302	Silent Mutation	TCG,TCT	S650S	XP_005274092.2
XM_005274036.3	2302	Silent Mutation	TCG,TCT	S627S	XP_005274093.2
XM_006718581.1	2302	Silent Mutation	TCG,TCT	S627S	XP_006718644.1
XM_011545091.1	2302	Silent Mutation	TCG,TCT	S650S	XP_011543393.1
XM_011545092.2	2302	Silent Mutation	TCG,TCT	S579S	XP_011543394.1
XM_011545093.2	2302	Silent Mutation	TCG,TCT	S236S	XP_011543395.1
XM_011545094.2	2302	Intron			XP_011543396.1
XM_017017876.1	2302	Silent Mutation	TCG,TCT	S478S	XP_016873365.1
XM_017017877.1	2302	Silent Mutation	TCG,TCT	S478S	XP_016873366.1
XM_017017878.1	2302	Silent Mutation	TCG,TCT	S478S	XP_016873367.1
XM_017017879.1	2302	Silent Mutation	TCG,TCT	S478S	XP_016873368.1
XM_017017880.1	2302	Intron			XP_016873369.1

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