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SNP ID: rs35617837
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:14613205 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATAGCTGGCTACCCGTCTGGGTTTT[C/T]GGCTTCTTATCCCTGCTGCCTGTCT
Phenotype: MIM: 601330
Polymorphism: C/T, Transition 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	3271	Intron			NP_787070.2
XM_005253322.4	3271	Intron			XP_005253379.1
XM_011520568.2	3271	Intron			XP_011518870.1
XM_011520569.2	3271	Intron			XP_011518871.1
XM_017018871.1	3271	Intron			XP_016874360.1
XM_017018872.1	3271	Intron			XP_016874361.1
XM_017018873.1	3271	Intron			XP_016874362.1
XM_017018874.1	3271	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	3271	Missense Mutation	CAA,CGA	Q1045R	NP_004954.2
XM_011520631.2	3271	Missense Mutation	CAA,CGA	Q963R	XP_011518933.1

Gene: PLBD1-AS1
Gene Name: PLBD1 antisense RNA 1

There are no transcripts associated with this gene.

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