Product Details

SNP ID

rs139081314

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:44220187 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCGGGGCCGGCCCTGCCCGTCAA[C/T]GTACTGCGTGAGCCGGATGTAAGCG

Phenotype

MIM: 607707 MIM: 606209

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CAMK2B PubMed Links

Gene Details

Gene

CAMK2B

Gene Name

calcium/calmodulin dependent protein kinase II beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001220.4	2091	Missense Mutation	ATT,GTT	I626V	NP_001211.3
NM_001293170.1	2091	Missense Mutation	ATT,GTT	I502V	NP_001280099.1
NM_172078.2	2091	Missense Mutation	ATT,GTT	I502V	NP_742075.1
NM_172079.2	2091	Missense Mutation	ATT,GTT	I478V	NP_742076.1
NM_172080.2	2091	Missense Mutation	ATT,GTT	I477V	NP_742077.1
NM_172081.2	2091	Missense Mutation	ATT,GTT	I463V	NP_742078.1
NM_172082.2	2091	Missense Mutation	ATT,GTT	I452V	NP_742079.1
NM_172083.2	2091	Missense Mutation	ATT,GTT	I439V	NP_742080.1
NM_172084.2	2091	Missense Mutation	ATT,GTT	I409V	NP_742081.1
XM_005249862.3	2091	Missense Mutation	ATT,GTT	I487V	XP_005249919.1
XM_005249864.3	2091	Missense Mutation	ATT,GTT	I454V	XP_005249921.1
XM_006715781.2	2091	Missense Mutation	ATT,GTT	I586V	XP_006715844.1
XM_006715784.2	2091	Missense Mutation	ATT,GTT	I478V	XP_006715847.1
XM_011515547.1	2091	Missense Mutation	ATT,GTT	I669V	XP_011513849.1
XM_011515549.1	2091	Missense Mutation	ATT,GTT	I654V	XP_011513851.1
XM_011515550.1	2091	Missense Mutation	ATT,GTT	I645V	XP_011513852.1
XM_011515551.1	2091	Missense Mutation	ATT,GTT	I645V	XP_011513853.1
XM_011515552.1	2091	Missense Mutation	ATT,GTT	I644V	XP_011513854.1
XM_011515553.1	2091	Missense Mutation	ATT,GTT	I631V	XP_011513855.1
XM_011515554.1	2091	Missense Mutation	ATT,GTT	I629V	XP_011513856.1
XM_011515555.1	2091	Missense Mutation	ATT,GTT	I626V	XP_011513857.1
XM_011515556.1	2091	Missense Mutation	ATT,GTT	I621V	XP_011513858.1
XM_011515557.1	2091	Missense Mutation	ATT,GTT	I620V	XP_011513859.1
XM_011515558.2	2091	Intron			XP_011513860.1
XM_011515559.1	2091	Missense Mutation	ATT,GTT	I540V	XP_011513861.1
XM_017012660.1	2091	Missense Mutation	ATT,GTT	I630V	XP_016868149.1
XM_017012661.1	2091	Missense Mutation	ATT,GTT	I616V	XP_016868150.1
XM_017012662.1	2091	Missense Mutation	ATT,GTT	I563V	XP_016868151.1
XM_017012663.1	2091	Missense Mutation	ATT,GTT	I516V	XP_016868152.1
XM_017012664.1	2091	Missense Mutation	ATT,GTT	I462V	XP_016868153.1
XM_017012665.1	2091	Missense Mutation	ATT,GTT	I453V	XP_016868154.1
XM_017012666.1	2091	Missense Mutation	ATT,GTT	I373V	XP_016868155.1
XM_017012667.1	2091	Missense Mutation	ATT,GTT	I358V	XP_016868156.1
XM_017012668.1	2091	Missense Mutation	ATT,GTT	I349V	XP_016868157.1
XM_017012669.1	2091	Missense Mutation	ATT,GTT	I349V	XP_016868158.1
XM_017012670.1	2091	Missense Mutation	ATT,GTT	I334V	XP_016868159.1

Gene

YKT6

Gene Name

YKT6 v-SNARE homolog (S. cerevisiae)

There are no transcripts associated with this gene.

View Full Product Details