Product Details

SNP ID

rs150711518

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:134964910 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGGAGAGCAGAAGGTCGCTCATG[C/G]TGGTCCCTAAGAAGGGAAAAACACA

Phenotype

MIM: 603862

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CCNT2 PubMed Links

Gene Details

Gene

CCNT2

Gene Name

cyclin T2

There are no transcripts associated with this gene.

Gene

MAP3K19

Gene Name

mitogen-activated protein kinase kinase kinase 19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001018044.2	3619	Missense Mutation	CAC,CAG	H1196Q	NP_001018054.1
NM_001018046.2	3619	Missense Mutation	CAC,CAG	H491Q	NP_001018056.1
NM_001018047.2	3619	Missense Mutation	CAC,CAG	H443Q	NP_001018057.1
NM_001282883.1	3619	Missense Mutation	CAC,CAG	H441Q	NP_001269812.1
NM_001321177.1	3619	Intron			NP_001308106.1
NM_025052.4	3619	Missense Mutation	CAC,CAG	H1309Q	NP_079328.3
XM_011511891.2	3619	Missense Mutation	CAC,CAG	H1326Q	XP_011510193.1
XM_011511892.1	3619	Missense Mutation	CAC,CAG	H1309Q	XP_011510194.1
XM_011511894.2	3619	Missense Mutation	CAC,CAG	H1281Q	XP_011510196.1
XM_011511896.2	3619	Missense Mutation	CAC,CAG	H1214Q	XP_011510198.1
XM_011511897.2	3619	Missense Mutation	CAC,CAG	H1214Q	XP_011510199.1
XM_017005003.1	3619	Missense Mutation	CAC,CAG	H1309Q	XP_016860492.1
XM_017005004.1	3619	Missense Mutation	CAC,CAG	H1281Q	XP_016860493.1
XM_017005005.1	3619	Missense Mutation	CAC,CAG	H1281Q	XP_016860494.1
XM_017005006.1	3619	Missense Mutation	CAC,CAG	H1187Q	XP_016860495.1
XM_017005007.1	3619	Intron			XP_016860496.1

View Full Product Details