Product Details

SNP ID

rs139757555

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:68157877 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGAGGAGGAATCATCTGTACTTTC[C/T]TCCTCATACTGACTATAGTCATCCA

Phenotype

MIM: 610881

Polymorphism

C/T, 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	2821	Silent Mutation	GAA,GAG	E651E	NP_001287836.1
NM_001300908.1	2821	Silent Mutation	GAA,GAG	E583E	NP_001287837.1
NM_001300909.1	2821	Intron			NP_001287838.1
NM_016028.4	2821	Intron			NP_057112.3
NM_017635.4	2821	Silent Mutation	GAA,GAG	E823E	NP_060105.3
XM_005274035.3	2821	Silent Mutation	GAA,GAG	E823E	XP_005274092.2
XM_005274036.3	2821	Silent Mutation	GAA,GAG	E800E	XP_005274093.2
XM_006718581.1	2821	Silent Mutation	GAA,GAG	E800E	XP_006718644.1
XM_011545091.1	2821	Silent Mutation	GAA,GAG	E823E	XP_011543393.1
XM_011545092.2	2821	Silent Mutation	GAA,GAG	E752E	XP_011543394.1
XM_011545093.2	2821	Silent Mutation	GAA,GAG	E409E	XP_011543395.1
XM_011545094.2	2821	Intron			XP_011543396.1
XM_017017876.1	2821	Silent Mutation	GAA,GAG	E651E	XP_016873365.1
XM_017017877.1	2821	Silent Mutation	GAA,GAG	E651E	XP_016873366.1
XM_017017878.1	2821	Silent Mutation	GAA,GAG	E651E	XP_016873367.1
XM_017017879.1	2821	Silent Mutation	GAA,GAG	E651E	XP_016873368.1
XM_017017880.1	2821	Intron			XP_016873369.1

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