Product Details

SNP ID: rs138446159
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:13305141 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CGGGGTCCCACAGTGTTTGTGCCAC[A/C]AGTCAATGGCCTTGCTCACGATCGC
Phenotype: MIM: 612655
Polymorphism: A/C, Transversion 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	978	Missense Mutation	TGG,TTG	W281L	NP_001137436.1
NM_001143965.3	978	Missense Mutation	TGG,TTG	W281L	NP_001137437.1
NM_001143966.3	978	Missense Mutation	TGG,TTG	W254L	NP_001137438.1
NM_001258457.2	978	Missense Mutation	TGG,TTG	W235L	NP_001245386.1
NM_001318805.1	978	Missense Mutation	TGG,TTG	W281L	NP_001305734.1
NM_001318806.1	978	Intron			NP_001305735.1
NM_016495.5	978	Missense Mutation	TGG,TTG	W281L	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	978	Missense Mutation	TGG,TTG	W281L	NP_001305738.1

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