Product Details

SNP ID

rs8114297

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:36998861 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGGCAGGGGATTCTGCATCACTATC[C/G]ATGGCTATTACTCGCTTCTTGGTTC

Phenotype

MIM: 116957

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

RBL1 PubMed Links

Gene Details

Gene

RBL1

Gene Name

RB transcriptional corepressor like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001323281.1	3003	Missense Mutation	ATC,ATG	I608M	NP_001310210.1
NM_001323282.1	3003	Missense Mutation	ATC,ATG	I608M	NP_001310211.1
NM_002895.4	3003	Missense Mutation	ATC,ATG	I1035M	NP_002886.2
NM_183404.3	3003	Intron			NP_899662.1
XM_006723842.2	3003	Missense Mutation	ATC,ATG	I863M	XP_006723905.1
XM_011528955.2	3003	Missense Mutation	ATC,ATG	I980M	XP_011527257.1
XM_011528958.2	3003	Intron			XP_011527260.1
XM_017027992.1	3003	Missense Mutation	ATC,ATG	I931M	XP_016883481.1

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