Product Details

SNP ID
rs144488557
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:35526773 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTCTCCACTTCCTTTCCAGCCTG[C/G]TCAGCAGCATGGTTGACCCCTTGGC
Phenotype
MIM: 609169 MIM: 609969
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
GAPDHS PubMed Links

Gene Details

Gene
GAPDHS
Gene Name
glyceraldehyde-3-phosphate dehydrogenase, spermatogenic
There are no transcripts associated with this gene.

Gene
SBSN
Gene Name
suprabasin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166034.1 1545 Missense Mutation GAC,GAG D503E NP_001159506.1
NM_001166035.1 1545 Intron NP_001159507.1
NM_198538.3 1545 Missense Mutation GAC,GAG D160E NP_940940.1
XM_011526929.2 1545 Missense Mutation GAC,GAG D485E XP_011525231.1
XM_011526930.2 1545 Missense Mutation GAC,GAG D485E XP_011525232.1
XM_011526931.2 1545 Missense Mutation GAC,GAG D467E XP_011525233.1

View Full Product Details