Product Details

SNP ID

rs75463413

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:14806140 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAAGCTGTGTTTTTTCCACTGCTC[C/T]CAGGATGGCACGGACAATCATATCT

Phenotype

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	3279	Intron			NP_787070.2
XM_005253322.4	3279	Intron			XP_005253379.1
XM_011520568.2	3279	Intron			XP_011518870.1
XM_011520569.2	3279	Intron			XP_011518871.1
XM_017018871.1	3279	Intron			XP_016874360.1
XM_017018872.1	3279	Intron			XP_016874361.1
XM_017018873.1	3279	Intron			XP_016874362.1
XM_017018874.1	3279	Intron			XP_016874363.1

Gene

SMCO3

Gene Name

single-pass membrane protein with coiled-coil domains 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013698.2	3279	Missense Mutation	AGA,GGA	R181G	NP_001013720.2
XM_017019312.1	3279	Missense Mutation	AGA,GGA	R181G	XP_016874801.1

Gene

WBP11

Gene Name

WW domain binding protein 11

There are no transcripts associated with this gene.

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