Product Details

SNP ID
rs138191448
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:56412474 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCACCGACATGAAGGGAACAGGC[A/G]TCATGGACTGTGCGCCCAAGGTGAG
Phenotype
MIM: 600369
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CASS4 PubMed Links

Gene Details

Gene
CASS4
Gene Name
Cas scaffolding protein family member 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164114.1 803 Missense Mutation ATC,GTC I6V NP_001157586.1
NM_001164115.1 803 Missense Mutation ATC,GTC I6V NP_001157587.1
NM_001164116.1 803 Missense Mutation ATC,GTC I6V NP_001157588.1
NM_020356.3 803 Missense Mutation ATC,GTC I6V NP_065089.2
XM_006723831.3 803 Missense Mutation ATC,GTC I6V XP_006723894.1
Gene
CSTF1
Gene Name
cleavage stimulation factor subunit 1
There are no transcripts associated with this gene.

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