Product Details

SNP ID
rs201039662
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:96197021 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATACAACTAGTGTATATGGTTGTT[C/T]GGAATCATGGCCAGAGCTTTTCCGA
Phenotype
MIM: 604515
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
BLNK PubMed Links

Gene Details

Gene
BLNK
Gene Name
B-cell linker
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001114094.1 1125 Missense Mutation AAA,GAA K357E NP_001107566.1
NM_001258440.1 1125 Intron NP_001245369.1
NM_001258441.1 1125 Intron NP_001245370.1
NM_001258442.1 1125 Intron NP_001245371.1
NM_013314.3 1125 Missense Mutation AAA,GAA K380E NP_037446.1
XM_011539728.2 1125 Missense Mutation AAA,GAA K380E XP_011538030.1
XM_017016159.1 1125 Missense Mutation AAA,GAA K357E XP_016871648.1

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