Product Details

SNP ID
rs150082618
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:118196779 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGATTTTTCACTTGGTTCTTCTT[C/T]CTCGATCACCTCCCGTACAATTATT
Phenotype
MIM: 609770
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
JAML PubMed Links

Gene Details

Gene
JAML
Gene Name
junction adhesion molecule like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098526.1 1160 Missense Mutation AAA,GAA K350E NP_001091996.1
NM_001286570.1 1160 Missense Mutation AAA,GAA K311E NP_001273499.1
NM_001286571.1 1160 Missense Mutation AAA,GAA K311E NP_001273500.1
NM_153206.2 1160 Missense Mutation AAA,GAA K340E NP_694938.2
XM_005271407.3 1160 Missense Mutation AAA,GAA K340E XP_005271464.1
XM_017017213.1 1160 Missense Mutation AAA,GAA K372E XP_016872702.1
XM_017017214.1 1160 Missense Mutation AAA,GAA K217E XP_016872703.1
XM_017017215.1 1160 Missense Mutation AAA,GAA K217E XP_016872704.1

View Full Product Details