Product Details

SNP ID
rs148800717
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:70425781 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCACAGATTCCTCTTCCGCCGCTG[C/G]GGACACTGGATGGACTGGTCCCTGG
Phenotype
MIM: 300521
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
GDPD2 PubMed Links

Gene Details

Gene
GDPD2
Gene Name
glycerophosphodiester phosphodiesterase domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001171191.1 475 UTR 5 NP_001164662.1
NM_001171192.1 475 Missense Mutation TGC,TGG C76W NP_001164663.1
NM_001171193.1 475 UTR 5 NP_001164664.1
NM_017711.3 475 Missense Mutation TGC,TGG C76W NP_060181.2
XM_011530977.1 475 Intron XP_011529279.1
XM_017029614.1 475 UTR 5 XP_016885103.1
Gene
KIF4A
Gene Name
kinesin family member 4A
There are no transcripts associated with this gene.

Gene
LOC105373244
Gene Name
uncharacterized LOC105373244
There are no transcripts associated with this gene.

View Full Product Details