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SNP ID

rs138750508

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:14621042 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGCTAAGATGCTCAACTCCATAC[C/G]AGAGTGAACTCCAATGCGAATCCAT

Phenotype

MIM: 601330

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

C12orf60 PubMed Links

Gene Details

Gene

C12orf60

Gene Name

chromosome 12 open reading frame 60

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175874.3	2913	Intron			NP_787070.2
XM_005253322.4	2913	Intron			XP_005253379.1
XM_011520568.2	2913	Intron			XP_011518870.1
XM_011520569.2	2913	Intron			XP_011518871.1
XM_017018871.1	2913	Intron			XP_016874360.1
XM_017018872.1	2913	Intron			XP_016874361.1
XM_017018873.1	2913	Intron			XP_016874362.1
XM_017018874.1	2913	Intron			XP_016874363.1

Gene

GUCY2C

Gene Name

guanylate cyclase 2C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004963.3	2913	Missense Mutation	CGT,GGT	R926G	NP_004954.2
XM_011520631.2	2913	Missense Mutation	CGT,GGT	R844G	XP_011518933.1

Gene

PLBD1-AS1

Gene Name

PLBD1 antisense RNA 1

There are no transcripts associated with this gene.

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