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SNP ID: rs143789506
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:86604066 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTCAGTACAGTGCAGCATATCAGCA[A/G]GCCAAGTTAACCAATCAGGTTCCAT
Phenotype: MIM: 602507
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: LOC105374845 PubMed Links

Gene Details

Gene: LOC105374845
Gene Name: uncharacterized LOC105374845

There are no transcripts associated with this gene.

Gene: RNF103
Gene Name: ring finger protein 103

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198951.1	1838	Missense Mutation	CCT,CTT	P608L	NP_001185880.1
NM_001198952.1	1838	Intron			NP_001185881.1
NM_005667.3	1838	Missense Mutation	CCT,CTT	P612L	NP_005658.1

Gene: RNF103-CHMP3
Gene Name: RNF103-CHMP3 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198954.1	1838	Intron			NP_001185883.1

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