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SNP ID: rs200272618
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:5063881 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTCATAATTGTGTCTCATGTGGAA[A/G]GAATTTAGAATCTATTTCGCAATTA
Phenotype: MIM: 608191
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: RBAK PubMed Links

Gene Details

Gene: RBAK
Gene Name: RB associated KRAB zinc finger

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204456.1	749	Missense Mutation	AAG,AGG	K142R	NP_001191385.1
NM_021163.3	749	Missense Mutation	AAG,AGG	K142R	NP_066986.1

Gene: RBAK-RBAKDN
Gene Name: RBAK-RBAKDN readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204513.1	749	Intron			NP_001191442.1

Gene: RBAKDN
Gene Name: RBAK downstream neighbor (non-protein coding)

There are no transcripts associated with this gene.

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