Product Details

SNP ID

rs139352792

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:118198042 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATGGCAGGGTTTTTCTTTTATCT[C/T]TGGATTAGTCTTCTTCGTGTTCTTC

Phenotype

MIM: 609770

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

JAML PubMed Links

Additional Information

For this assay, SNP(s) [rs2298831] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1073	Missense Mutation	AAG,GAG	K321E	NP_001091996.1
NM_001286570.1	1073	Missense Mutation	AAG,GAG	K282E	NP_001273499.1
NM_001286571.1	1073	Missense Mutation	AAG,GAG	K282E	NP_001273500.1
NM_153206.2	1073	Missense Mutation	AAG,GAG	K311E	NP_694938.2
XM_005271407.3	1073	Missense Mutation	AAG,GAG	K311E	XP_005271464.1
XM_017017213.1	1073	Missense Mutation	AAG,GAG	K343E	XP_016872702.1
XM_017017214.1	1073	Missense Mutation	AAG,GAG	K188E	XP_016872703.1
XM_017017215.1	1073	Missense Mutation	AAG,GAG	K188E	XP_016872704.1

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