Product Details

SNP ID: rs202204638
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:219169340 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CAGGTGTCTGGATGGCCCGGGGTAG[C/G]TTCTGGCTGGTCAGCACCAGAGCAG
Phenotype: MIM: 611290
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: CNPPD1 PubMed Links

Gene Details

Gene: CNPPD1
Gene Name: cyclin Pas1/PHO80 domain containing 1

There are no transcripts associated with this gene.

Gene: FAM134A
Gene Name: family with sequence similarity 134 member A

There are no transcripts associated with this gene.

Gene: NHEJ1
Gene Name: non-homologous end joining factor 1

There are no transcripts associated with this gene.

Gene: SLC23A3
Gene Name: solute carrier family 23 member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001144889.1	498	Missense Mutation	AAC,AAG	N129K	NP_001138361.1
NM_001144890.1	498	Missense Mutation	AAC,AAG	N129K	NP_001138362.1
NM_144712.4	498	Missense Mutation	AAC,AAG	N129K	NP_653313.3

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