Product Details

SNP ID

rs147056671

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27629885 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTCACAGGACACCTGCATGCCCA[A/G]GGCACTCCACCGTATGTGATCAACC

Phenotype

MIM: 611479

Polymorphism

A/G, Transition 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	201	Intron			NP_001136155.1
NM_024584.4	201	Intron			NP_078860.2
XM_005264560.3	201	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	201	Silent Mutation	CAA,CAG	Q34Q	NP_001138519.1
NM_001145048.1	201	UTR 5			NP_001138520.1
NM_001145049.1	201	UTR 5			NP_001138521.1
NM_007266.3	201	Silent Mutation	CAA,CAG	Q60Q	NP_009197.2

Gene

ZNF512

Gene Name

zinc finger protein 512

There are no transcripts associated with this gene.

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