Product Details

SNP ID

rs138792854

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:9811032 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCAGCTCAAGGACTCTGAGCTTG[A/G]GCATAGTGAGGCAGGAGGAGAGGAT

Phenotype

MIM: 609079

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FBXL12 PubMed Links

Gene Details

Gene

FBXL12

Gene Name

F-box and leucine rich repeat protein 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001316936.1	1135	Missense Mutation	CCC,CTC	P249L	NP_001303865.1
NM_001316937.1	1135	Missense Mutation	CCC,CTC	P229L	NP_001303866.1
NM_001316938.1	1135	Missense Mutation	CCC,CTC	P229L	NP_001303867.1
NM_001316939.1	1135	Missense Mutation	CCC,CTC	P229L	NP_001303868.1
NM_001316940.1	1135	Missense Mutation	CCC,CTC	P229L	NP_001303869.1
NM_001316941.1	1135	Missense Mutation	CCC,CTC	P229L	NP_001303870.1
NM_001316942.1	1135	Missense Mutation	CCC,CTC	P229L	NP_001303871.1
NM_017703.2	1135	Missense Mutation	CCC,CTC	P282L	NP_060173.1
XM_006722782.3	1135	Missense Mutation	CCC,CTC	P240L	XP_006722845.2
XM_017026912.1	1135	Missense Mutation	CCC,CTC	P299L	XP_016882401.1

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