Product Details

SNP ID
rs147254848
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:38385436 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCTCTCACCAGGCAGAGACGTTG[C/T]GTGGCAGGCGGCGATGGCGTGGCTG
Phenotype
MIM: 609966 MIM: 609293
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GGN PubMed Links

Gene Details

Gene
GGN
Gene Name
gametogenetin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152657.3 2073 Missense Mutation CAC,CGC H609R NP_689870.3
XM_005258619.4 2073 Missense Mutation CAC,CGC H609R XP_005258676.1
XM_011526603.2 2073 Missense Mutation CAC,CGC H526R XP_011524905.1
XM_017026451.1 2073 Missense Mutation CAC,CGC H609R XP_016881940.1
Gene
PSMD8
Gene Name
proteasome 26S subunit, non-ATPase 8
There are no transcripts associated with this gene.

Gene
SPRED3
Gene Name
sprouty related EVH1 domain containing 3
There are no transcripts associated with this gene.

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