Product Details

SNP ID

rs199614101

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:1212301 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCTTGACGGTTTGGCCAGGAGAA[A/G]GGGCGTGGGGCGGGTGGGCCACAGG

Phenotype

MIM: 602618 MIM: 605918

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CTBP1 PubMed Links

Gene Details

Gene

CTBP1

Gene Name

C-terminal binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012614.1	7373	Missense Mutation	CCT,CTT	P410L	NP_001012632.1
NM_001328.2	7373	Missense Mutation	CCT,CTT	P421L	NP_001319.1
XM_005272261.3	7373	Missense Mutation	CCT,CTT	P422L	XP_005272318.1
XM_005272263.4	7373	Missense Mutation	CCT,CTT	P411L	XP_005272320.1
XM_011513395.2	7373	Missense Mutation	CCT,CTT	P411L	XP_011511697.1
XM_011513396.2	7373	Missense Mutation	CCT,CTT	P411L	XP_011511698.1
XM_011513397.2	7373	Missense Mutation	CCT,CTT	P348L	XP_011511699.1
XM_017007762.1	7373	Missense Mutation	CCT,CTT	P411L	XP_016863251.1
XM_017007763.1	7373	Missense Mutation	CCT,CTT	P411L	XP_016863252.1
XM_017007764.1	7373	Missense Mutation	CCT,CTT	P410L	XP_016863253.1
XM_017007765.1	7373	Missense Mutation	CCT,CTT	P410L	XP_016863254.1
XM_017007766.1	7373	Missense Mutation	CCT,CTT	P410L	XP_016863255.1
XM_017007767.1	7373	Missense Mutation	CCT,CTT	P410L	XP_016863256.1

Gene

CTBP1-AS

Gene Name

CTBP1 antisense RNA

There are no transcripts associated with this gene.

Gene

LOC100130872

Gene Name

uncharacterized LOC100130872

There are no transcripts associated with this gene.

Gene

SPON2

Gene Name

spondin 2

There are no transcripts associated with this gene.

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