Product Details

SNP ID

rs146447048

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:438640 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCCCATTCCAGGGCACTTTTCAC[C/T]ACAGCCAGTGCAGCCGCTCCAAGTG

Phenotype

MIM: 610924 MIM: 611663

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RBCK1 PubMed Links

Gene Details

Gene

RBCK1

Gene Name

RANBP2-type and C3HC4-type zinc finger containing 1

There are no transcripts associated with this gene.

Gene

TBC1D20

Gene Name

TBC1 domain family member 20

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144628.3	1077	Silent Mutation	GTA,GTG	V386V	NP_653229.1
XM_005260661.1	1077	Silent Mutation	GTA,GTG	V386V	XP_005260718.1
XM_006723540.3	1077	Silent Mutation	GTA,GTG	V324V	XP_006723603.1
XM_017027645.1	1077	Silent Mutation	GTA,GTG	V324V	XP_016883134.1

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