Product Details

SNP ID
rs113668714
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:37566507 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCGCCACACCATGCATGTGGGCC[A/G]TGGCGGGGATGTCTTCGGGGACACG
Phenotype
MIM: 606084 MIM: 150571
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CDC42EP1 PubMed Links

Gene Details

Gene
CDC42EP1
Gene Name
CDC42 effector protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152243.2 576 Missense Mutation CAT,CGT H53R NP_689449.1
XM_006724107.1 576 Missense Mutation CAT,CGT H53R XP_006724170.1
XM_006724108.1 576 Missense Mutation CAT,CGT H53R XP_006724171.1
XM_006724109.1 576 Missense Mutation CAT,CGT H53R XP_006724172.1
XM_017028541.1 576 Missense Mutation CAT,CGT H53R XP_016884030.1
Gene
LGALS2
Gene Name
galectin 2
There are no transcripts associated with this gene.

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