Product Details

SNP ID
rs202079864
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:75797051 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCGGTTTCCCCGTCGTCGGGAGA[A/C]ACCCGCTCACCTCAGGGTCCCCGCT
Phenotype
MIM: 602105 MIM: 179080
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MSH4 PubMed Links

Gene Details

Gene
MSH4
Gene Name
mutS homolog 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002440.3 181 Missense Mutation GAA,GAC E22D NP_002431.2
Gene
RABGGTB
Gene Name
Rab geranylgeranyltransferase beta subunit
There are no transcripts associated with this gene.

Gene
SNORD45A
Gene Name
small nucleolar RNA, C/D box 45A
There are no transcripts associated with this gene.

Gene
SNORD45B
Gene Name
small nucleolar RNA, C/D box 45B
There are no transcripts associated with this gene.

Gene
SNORD45C
Gene Name
small nucleolar RNA, C/D box 45C
There are no transcripts associated with this gene.

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