Product Details

SNP ID
rs141103595
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:96197019 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAATACAACTAGTGTATATGGTTG[G/T]TTGGAATCATGGCCAGAGCTTTTCC
Phenotype
MIM: 604515
Polymorphism
G/T, Transversion 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 1127 Missense Mutation AAA,AAC K357N NP_001107566.1
NM_001258440.1 1127 Intron NP_001245369.1
NM_001258441.1 1127 Intron NP_001245370.1
NM_001258442.1 1127 Intron NP_001245371.1
NM_013314.3 1127 Missense Mutation AAA,AAC K380N NP_037446.1
XM_011539728.2 1127 Missense Mutation AAA,AAC K380N XP_011538030.1
XM_017016159.1 1127 Missense Mutation AAA,AAC K357N XP_016871648.1

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