Product Details

SNP ID
rs193045993
Assay Type
Functionally Tested
NCBI dbSNP Submissions
19
Location
Chr.1:217631382 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAAACCCAAGGCCAAGAGACCATG[A/G]CCACGTTAGCCCGGCTGCAAGCTAG
Phenotype
MIM: 616836 MIM: 611032
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
GPATCH2 PubMed Links

Gene Details

Gene
GPATCH2
Gene Name
G-patch domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297754.1 59 Intron NP_001284683.1
NM_018040.3 59 Intron NP_060510.1
XM_011509689.2 59 Intron XP_011507991.1
XM_011509690.2 59 Intron XP_011507992.1
XM_011509691.2 59 Intron XP_011507993.1
XM_011509693.2 59 Intron XP_011507995.1
XM_011509694.2 59 Intron XP_011507996.1
XM_017001592.1 59 Intron XP_016857081.1
XM_017001593.1 59 Intron XP_016857082.1
Gene
SPATA17
Gene Name
spermatogenesis associated 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138796.3 59 Missense Mutation ACC,GCC T2A NP_620151.1
XM_005273052.1 59 Missense Mutation ACC,GCC T2A XP_005273109.1
XM_006711165.3 59 Missense Mutation ACC,GCC T2A XP_006711228.1
XM_011509194.2 59 Missense Mutation ACC,GCC T2A XP_011507496.1

View Full Product Details