Product Details

SNP ID
rs142534228
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:3514615 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACCTGTTCGTCTTACAGGCCCCGG[C/G]TCTTCGTTAAGGAAGGAGACGTGCG
Phenotype
MIM: 607066
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SPATA22 PubMed Links

Gene Details

Gene
SPATA22
Gene Name
spermatogenesis associated 22
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001170695.1 2578 Intron NP_001164166.1
NM_001170696.1 2578 Intron NP_001164167.1
NM_001170697.1 2578 Intron NP_001164168.1
NM_001170698.1 2578 Intron NP_001164169.1
NM_001170699.1 2578 Intron NP_001164170.1
NM_001321336.1 2578 Intron NP_001308265.1
NM_001321337.1 2578 Intron NP_001308266.1
NM_032598.4 2578 Intron NP_115987.2
Gene
TRPV3
Gene Name
transient receptor potential cation channel subfamily V member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001258205.1 2578 Missense Mutation GAC,GAG D752E NP_001245134.1
NM_145068.3 2578 Missense Mutation GAC,GAG D752E NP_659505.1

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