Product Details

SNP ID
rs147217108
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:36554852 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAATTTCCTGATAATGTGTTAAA[A/T]CTCGATGGACATCAGAATAATGGTG
Phenotype
MIM: 612275
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
GGNBP2 PubMed Links

Gene Details

Gene
GGNBP2
Gene Name
gametogenetin binding protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024835.4 181 Missense Mutation AAA,AAT K42N NP_079111.1
XM_005257689.2 181 Missense Mutation AAA,AAT K42N XP_005257746.1
XM_011525265.2 181 Missense Mutation AAA,AAT K11N XP_011523567.1
XM_011525266.1 181 Missense Mutation AAA,AAT K42N XP_011523568.1
XM_017025107.1 181 Missense Mutation AAA,AAT K11N XP_016880596.1

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