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SNP ID: rs139936437
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:27629119 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTCTGGGGGTCCGCGGCACCCAGTG[G/T]GTCTGTTGGTGTTGGGAATGGCGGG
Phenotype: MIM: 611479
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: CCDC121 PubMed Links

Gene Details

Gene: CCDC121
Gene Name: coiled-coil domain containing 121

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142683.2	124	Intron			NP_001136155.1
NM_024584.4	124	Intron			NP_078860.2
XM_005264560.3	124	Intron			XP_005264617.1

Gene: GPN1
Gene Name: GPN-loop GTPase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145047.1	124	Intron			NP_001138519.1
NM_001145048.1	124	Intron			NP_001138520.1
NM_001145049.1	124	Intron			NP_001138521.1
NM_007266.3	124	Missense Mutation	GGT,TGT	G35C	NP_009197.2

Gene: ZNF512
Gene Name: zinc finger protein 512

There are no transcripts associated with this gene.

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