Product Details

SNP ID: rs139776755
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:35547411 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CGGGGCTGCTGGCCCTCAGCACTTT[G/T]GCCCTGTATGTCGCCGTTGTCAATG
Phenotype: MIM: 137216 MIM: 609169 MIM: 613585
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: ATP4A PubMed Links

Gene Details

Gene: ATP4A
Gene Name: ATPase H+/K+ transporting alpha subunit

There are no transcripts associated with this gene.

Gene: GAPDHS
Gene Name: glyceraldehyde-3-phosphate dehydrogenase, spermatogenic

There are no transcripts associated with this gene.

Gene: TMEM147
Gene Name: transmembrane protein 147

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242597.1	557	Missense Mutation	TTG,TTT	L164F	NP_001229526.1
NM_001242598.1	557	Missense Mutation	TTG,TTT	L139F	NP_001229527.1
NM_032635.3	557	Missense Mutation	TTG,TTT	L213F	NP_116024.1

Gene: TMEM147-AS1
Gene Name: TMEM147 antisense RNA 1

There are no transcripts associated with this gene.

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