Product Details

SNP ID

rs201100995

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:438782 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCCGAAACCGCTGCCGCAGCACC[A/G]TATCAGGCCTCTGCTGGGCTGATGC

Phenotype

MIM: 610924 MIM: 611663

Polymorphism

A/G, 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	935	Missense Mutation			NP_653229.1
XM_005260661.1	935	Missense Mutation			XP_005260718.1
XM_006723540.3	935	Missense Mutation			XP_006723603.1
XM_017027645.1	935	Missense Mutation			XP_016883134.1

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