Product Details

SNP ID
rs139960136
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:128422971 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTGTGGTCTGGAGGCCTGAGGGC[A/G]AGCCCAGGTGGTGATCTGAGGGGAA
Phenotype
MIM: 616626
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CERCAM PubMed Links

Gene Details

Gene
CERCAM
Gene Name
cerebral endothelial cell adhesion molecule
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286760.1 699 Missense Mutation AAG,GAG K23E NP_001273689.1
NM_016174.4 699 Missense Mutation AAG,GAG K101E NP_057258.3
XM_005252035.1 699 Missense Mutation AAG,GAG K101E XP_005252092.1
XM_011518762.1 699 Missense Mutation AAG,GAG K101E XP_011517064.1
XM_011518763.2 699 Missense Mutation AAG,GAG K23E XP_011517065.1
XM_017014794.1 699 Missense Mutation AAG,GAG K101E XP_016870283.1

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