Product Details

SNP ID

rs147755302

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:75436986 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGCTGACGTCCCGGCTGGTCCGG[C/T]GCACCGCAGCACTCAGCATGATCTG

Phenotype

MIM: 609632

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GDPD5 PubMed Links

Gene Details

Gene

GDPD5

Gene Name

glycerophosphodiester phosphodiesterase domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030792.6	2888	Missense Mutation	CAC,CGC	H540R	NP_110419.5
XM_006718697.3	2888	Missense Mutation	CAC,CGC	H540R	XP_006718760.1
XM_011545276.2	2888	Missense Mutation	CAC,CGC	H540R	XP_011543578.1
XM_011545277.2	2888	Missense Mutation	CAC,CGC	H540R	XP_011543579.1
XM_011545278.2	2888	Missense Mutation	CAC,CGC	H540R	XP_011543580.1
XM_011545279.2	2888	Missense Mutation	CAC,CGC	H540R	XP_011543581.1
XM_011545280.1	2888	Missense Mutation	CAC,CGC	H483R	XP_011543582.1
XM_011545281.2	2888	Missense Mutation	CAC,CGC	H402R	XP_011543583.1
XM_011545285.2	2888	Missense Mutation	CAC,CGC	H402R	XP_011543587.1
XM_011545286.1	2888	Missense Mutation	CAC,CGC	H295R	XP_011543588.1
XM_011545287.1	2888	Missense Mutation	CAC,CGC	H295R	XP_011543589.1

Gene

KLHL35

Gene Name

kelch like family member 35

There are no transcripts associated with this gene.

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