Product Details

SNP ID
rs2439534
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:13305525 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AGGACATGAGGTAACCCATGGAAAA[C/T]ACTTAGCACAGGCTTCGCACTGCTA
Phenotype
MIM: 612655
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LOC100130357 PubMed Links

Gene Details

Gene
LOC100130357
Gene Name
uncharacterized LOC100130357
There are no transcripts associated with this gene.

Gene
TBC1D7
Gene Name
TBC1 domain family member 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143964.3 Intron NP_001137436.1
NM_001143965.3 Intron NP_001137437.1
NM_001143966.3 Intron NP_001137438.1
NM_001258457.2 Intron NP_001245386.1
NM_001318805.1 Intron NP_001305734.1
NM_001318806.1 Intron NP_001305735.1
NM_016495.5 Intron NP_057579.1
Gene
TBC1D7-LOC100130357
Gene Name
TBC1D7-LOC100130357 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318809.1 Intron NP_001305738.1

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