Product Details

SNP ID

rs181295220

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:75425560 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGCTGTGCAGGCGCCTCAGGCCGT[C/T]GAAGCCACCCACCGCGAACAGCTGC

Phenotype

MIM: 609632 MIM: 600454

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GDPD5 PubMed Links

Gene Details

Gene

GDPD5

Gene Name

glycerophosphodiester phosphodiesterase domain containing 5

There are no transcripts associated with this gene.

Gene

KLHL35

Gene Name

kelch like family member 35

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039548.2	1207	Missense Mutation	AAC,GAC	N403D	NP_001034637.2
XM_011544954.2	1207	Missense Mutation	AAC,GAC	N406D	XP_011543256.1

Gene

RPS3

Gene Name

ribosomal protein S3

There are no transcripts associated with this gene.

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