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SNP ID: rs151094089
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:169701500 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGTGAATTATACACAAATTGTTTAT[A/C]TTGGTGATGGTGGAAATGATGTCTG
Phenotype
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: CCDC173 PubMed Links

Gene Details

Gene: CCDC173
Gene Name: coiled-coil domain containing 173

There are no transcripts associated with this gene.

Gene: PHOSPHO2
Gene Name: phosphatase, orphan 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008489.3	828	Missense Mutation	ATT,CTT	I177L	NP_001008489.1
NM_001199285.1	828	Missense Mutation	ATT,CTT	I177L	NP_001186214.1
NM_001199286.1	828	Missense Mutation	ATT,CTT	I177L	NP_001186215.1
NM_001199287.1	828	Missense Mutation	ATT,CTT	I177L	NP_001186216.1
NM_001199288.1	828	Missense Mutation	ATT,CTT	I177L	NP_001186217.1

Gene: PHOSPHO2-KLHL23
Gene Name: PHOSPHO2-KLHL23 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199290.1	828	Intron			NP_001186219.1

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