Product Details

SNP ID: rs2278139
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:47521153 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CGCTGTCGCGGGCCGCGGGGTCGGC[A/G]CCGAGCGCGGCCAGGCGGCGGCGCA
Phenotype: MIM: 607366 MIM: 609309
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: HCG2040054 PubMed Links

Gene Details

Gene: HCG2040054
Gene Name: uncharacterized LOC644093

There are no transcripts associated with this gene.

Gene: KCNK12
Gene Name: potassium two pore domain channel subfamily K member 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022055.1	1047	Silent Mutation	GGC,GGT	G349G	NP_071338.1

Gene: MSH2
Gene Name: mutS homolog 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000251.2	1047	Intron			NP_000242.1
NM_001258281.1	1047	Intron			NP_001245210.1
XM_005264332.3	1047	Intron			XP_005264389.2
XM_011532867.1	1047	Intron			XP_011531169.1

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