Product Details

SNP ID: rs142058781
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:70426872 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGTCCCCCACTCCCCACAGGTCCCA[A/G]GATTCTGCTACTGCTCCTATTTTTT
Phenotype: MIM: 300521
Polymorphism: A/G, Transition 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	440	Missense Mutation	AAG,AGG	K109R	NP_001164662.1
NM_001171192.1	440	Missense Mutation	AAG,AGG	K188R	NP_001164663.1
NM_001171193.1	440	Missense Mutation	AAG,AGG	K109R	NP_001164664.1
NM_017711.3	440	Missense Mutation	AAG,AGG	K188R	NP_060181.2
XM_011530977.1	440	Missense Mutation	AAG,AGG	K61R	XP_011529279.1
XM_017029614.1	440	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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011531081.2	440	Intron			XP_011529383.1
XM_011531082.2	440	Intron			XP_011529384.1

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