Product Details

SNP ID
rs145257721
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:66304669 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAGCCTTTTCTTAGAGTTGGTGCT[C/T]CTTAGGACTCTCAGTAGCACCTCCT
Phenotype
MIM: 603581
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PCDH9 PubMed Links

Gene Details

Gene
PCDH9
Gene Name
protocadherin 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318372.1 4392 Missense Mutation AAG,GAG K1192E NP_001305301.1
NM_001318373.1 4392 Missense Mutation AAG,GAG K1158E NP_001305302.1
NM_001318374.1 4392 Intron NP_001305303.1
NM_020403.4 4392 Missense Mutation AAG,GAG K1200E NP_065136.1
NM_203487.2 4392 Missense Mutation AAG,GAG K1234E NP_982354.1
XM_005266408.3 4392 Intron XP_005266465.1
XM_011535099.2 4392 Intron XP_011533401.1
XM_017020619.1 4392 Missense Mutation AAG,GAG K1234E XP_016876108.1
XM_017020620.1 4392 Intron XP_016876109.1
XM_017020621.1 4392 Intron XP_016876110.1

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