Product Details

SNP ID

rs199959705

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:128792574 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTGCAGATCGACAAAGATGTCC[A/G]GTAGGCAGGGTGCCTGGGGCCGGGA

Phenotype

MIM: 616218

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TBC1D13 PubMed Links

Gene Details

Gene

TBC1D13

Gene Name

TBC1 domain family member 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286772.1	433	Missense Mutation	CAG,CGG	Q128R	NP_001273701.1
NM_018201.4	433	Missense Mutation	CAG,CGG	Q128R	NP_060671.3
XM_005252060.2	433	Missense Mutation	CAG,CGG	Q52R	XP_005252117.1

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