Product Details

SNP ID

rs138680984

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:68158426 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGACCCATCAAATCTGGTACCGC[A/G]TCGTCTTTTCCAGGAGAATCGTGCA

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	2272	Silent Mutation	GAC,GAT	D468D	NP_001287836.1
NM_001300908.1	2272	Silent Mutation	GAC,GAT	D400D	NP_001287837.1
NM_001300909.1	2272	Intron			NP_001287838.1
NM_016028.4	2272	Intron			NP_057112.3
NM_017635.4	2272	Silent Mutation	GAC,GAT	D640D	NP_060105.3
XM_005274035.3	2272	Silent Mutation	GAC,GAT	D640D	XP_005274092.2
XM_005274036.3	2272	Silent Mutation	GAC,GAT	D617D	XP_005274093.2
XM_006718581.1	2272	Silent Mutation	GAC,GAT	D617D	XP_006718644.1
XM_011545091.1	2272	Silent Mutation	GAC,GAT	D640D	XP_011543393.1
XM_011545092.2	2272	Silent Mutation	GAC,GAT	D569D	XP_011543394.1
XM_011545093.2	2272	Silent Mutation	GAC,GAT	D226D	XP_011543395.1
XM_011545094.2	2272	Intron			XP_011543396.1
XM_017017876.1	2272	Silent Mutation	GAC,GAT	D468D	XP_016873365.1
XM_017017877.1	2272	Silent Mutation	GAC,GAT	D468D	XP_016873366.1
XM_017017878.1	2272	Silent Mutation	GAC,GAT	D468D	XP_016873367.1
XM_017017879.1	2272	Silent Mutation	GAC,GAT	D468D	XP_016873368.1
XM_017017880.1	2272	Intron			XP_016873369.1

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