Product Details

SNP ID
rs150547726
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:117711772 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCAGTAGTTTGATGGCTGCTGAGA[A/G]GACTGACCTCCTGTAAGAGACAAGA
Phenotype
MIM: 609772
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CTTNBP2 PubMed Links

Gene Details

Gene
CTTNBP2
Gene Name
cortactin binding protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033427.2 4849 Missense Mutation CCT,CTT P1586L NP_219499.1
XM_005250634.4 4849 Missense Mutation CCT,CTT P1568L XP_005250691.1
XM_005250635.3 4849 Missense Mutation CCT,CTT P887L XP_005250692.1
XM_011516615.2 4849 Missense Mutation CCT,CTT P1568L XP_011514917.1
XM_011516616.2 4849 Intron XP_011514918.1
XM_011516618.2 4849 Intron XP_011514920.1
XM_017012706.1 4849 Intron XP_016868195.1
XM_017012707.1 4849 Intron XP_016868196.1
XM_017012708.1 4849 Missense Mutation CCT,CTT P887L XP_016868197.1

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