Product Details

SNP ID

rs201538793

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:124992705 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTCCTTTTCTCACCTGTATGTGG[C/T]ACCATTGAGCTCAGGATGAATTGCT

Phenotype

MIM: 602619 MIM: 611749

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CTBP2 PubMed Links

Gene Details

Gene

CTBP2

Gene Name

C-terminal binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001083914.2	3355	Intron			NP_001077383.1
NM_001290214.2	3355	Intron			NP_001277143.1
NM_001290215.2	3355	Missense Mutation	ACC,GCC	T383A	NP_001277144.1
NM_001321012.1	3355	Missense Mutation	ACC,GCC	T383A	NP_001307941.1
NM_001321013.1	3355	Missense Mutation	ACC,GCC	T383A	NP_001307942.1
NM_001321014.1	3355	Missense Mutation	ACC,GCC	T383A	NP_001307943.1
NM_001329.3	3355	Intron			NP_001320.1
NM_022802.2	3355	Missense Mutation	ACC,GCC	T923A	NP_073713.2
XM_005269561.2	3355	Missense Mutation	ACC,GCC	T383A	XP_005269618.1
XM_005269564.2	3355	Missense Mutation	ACC,GCC	T383A	XP_005269621.1
XM_005269567.2	3355	Missense Mutation	ACC,GCC	T383A	XP_005269624.1
XM_005269568.4	3355	Missense Mutation	ACC,GCC	T383A	XP_005269625.1
XM_005269569.2	3355	Missense Mutation	ACC,GCC	T383A	XP_005269626.1
XM_005269571.2	3355	Missense Mutation	ACC,GCC	T383A	XP_005269628.1
XM_005269572.3	3355	Missense Mutation	ACC,GCC	T383A	XP_005269629.1
XM_006717642.2	3355	Missense Mutation	ACC,GCC	T383A	XP_006717705.1
XM_011539349.2	3355	Missense Mutation	ACC,GCC	T451A	XP_011537651.1
XM_011539351.1	3355	Missense Mutation	ACC,GCC	T383A	XP_011537653.1
XM_011539353.1	3355	Missense Mutation	ACC,GCC	T383A	XP_011537655.1
XM_011539354.1	3355	Missense Mutation	ACC,GCC	T383A	XP_011537656.1
XM_011539355.1	3355	Missense Mutation	ACC,GCC	T383A	XP_011537657.1
XM_011539357.1	3355	Missense Mutation	ACC,GCC	T358A	XP_011537659.1
XM_011539358.1	3355	Missense Mutation	ACC,GCC	T358A	XP_011537660.1
XM_017015756.1	3355	Missense Mutation	ACC,GCC	T383A	XP_016871245.1
XM_017015757.1	3355	Missense Mutation	ACC,GCC	T383A	XP_016871246.1

Gene

ZRANB1

Gene Name

zinc finger RANBP2-type containing 1

There are no transcripts associated with this gene.

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