Product Details

SNP ID
rs201053172
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:33519591 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGATGTCTGTGGGCTGGATGTTG[C/T]GGTCGTACATTGGGTTCTCAAATGT
Phenotype
MIM: 608398
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CSMD2 PubMed Links

Gene Details

Gene
CSMD2
Gene Name
CUB and Sushi multiple domains 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001281956.1 10922 Missense Mutation NP_001268885.1
NM_052896.4 10922 Missense Mutation NP_443128.2
XM_017000185.1 10922 Missense Mutation XP_016855674.1
XM_017000186.1 10922 Missense Mutation XP_016855675.1
XM_017000187.1 10922 Missense Mutation XP_016855676.1
XM_017000188.1 10922 Missense Mutation XP_016855677.1
XM_017000189.1 10922 Intron XP_016855678.1
XM_017000190.1 10922 Missense Mutation XP_016855679.1
XM_017000191.1 10922 Intron XP_016855680.1
XM_017000192.1 10922 Intron XP_016855681.1
XM_017000193.1 10922 Intron XP_016855682.1
XM_017000194.1 10922 Missense Mutation XP_016855683.1

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