Product Details

SNP ID

rs200287025

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:18971021 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCCTGACCCCTCCAGCTTTTGAC[C/T]AGATCGGTGGTTACGGGCAGCTGGA

Phenotype

MIM: 615886

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM83G PubMed Links

Gene Details

Gene

FAM83G

Gene Name

family with sequence similarity 83 member G

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001039999.2	3061	Intron			NP_001035088.2
XM_017024953.1	3061	UTR 3			XP_016880442.1

Gene

SLC5A10

Gene Name

solute carrier family 5 member 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042450.2	3061	Nonsense Mutation	CAG,TAG	Q217*	NP_001035915.1
NM_001270648.1	3061	Nonsense Mutation	CAG,TAG	Q190*	NP_001257577.1
NM_001270649.1	3061	Nonsense Mutation	CAG,TAG	Q217*	NP_001257578.1
NM_001282417.1	3061	Nonsense Mutation	CAG,TAG	Q134*	NP_001269346.1
NM_152351.4	3061	Nonsense Mutation	CAG,TAG	Q217*	NP_689564.3
XM_011523652.1	3061	Nonsense Mutation	CAG,TAG	Q259*	XP_011521954.1
XM_011523653.2	3061	Nonsense Mutation	CAG,TAG	Q232*	XP_011521955.1
XM_017024191.1	3061	Nonsense Mutation	CAG,TAG	Q259*	XP_016879680.1

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