Product Details

SNP ID
rs201550362
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6954843 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACATGTCTGGCGGGCAGGCAGAGA[C/T]GCTGCTGCAGGCCAAGGGCGAGCCC
Phenotype
MIM: 615140 MIM: 612093 MIM: 612092 MIM: 176883
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C12orf57 PubMed Links

Gene Details

Gene
C12orf57
Gene Name
chromosome 12 open reading frame 57
There are no transcripts associated with this gene.

Gene
LOC105369635
Gene Name
uncharacterized LOC105369635
There are no transcripts associated with this gene.

Gene
MIR141
Gene Name
microRNA 141
There are no transcripts associated with this gene.

Gene
MIR200C
Gene Name
microRNA 200c
There are no transcripts associated with this gene.

Gene
PTPN6
Gene Name
protein tyrosine phosphatase, non-receptor type 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002831.5 520 Missense Mutation ACG,ATG T122M NP_002822.2
NM_080548.4 520 Missense Mutation ACG,ATG T124M NP_536858.1
NM_080549.3 520 Missense Mutation ACG,ATG T122M NP_536859.1
XM_006718994.1 520 Missense Mutation ACG,ATG T8M XP_006719057.1
XM_011520988.1 520 Missense Mutation ACG,ATG T124M XP_011519290.1

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