Product Details

SNP ID
rs201365025
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:2387287 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGCCCCTGCAGAACGTGGTTCA[C/G]AGTCTGGATGACTGAAGCGTGAGTG
Phenotype
MIM: 603039 MIM: 611418
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MNT PubMed Links

Gene Details

Gene
MNT
Gene Name
MAX network transcriptional repressor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020310.2 649 Missense Mutation CTG,GTG L455V NP_064706.1
XM_011523868.2 649 Missense Mutation CTG,GTG L463V XP_011522170.1
XM_011523869.1 649 Missense Mutation CTG,GTG L174V XP_011522171.1
XM_017024654.1 649 Missense Mutation CTG,GTG L174V XP_016880143.1
Gene
SGSM2
Gene Name
small G protein signaling modulator 2
There are no transcripts associated with this gene.

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