Product Details

SNP ID

rs145429275

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43037924 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAGGTGTAGGATGCAGGAGAGGA[C/T]GTCAGTGCTGCTGCATGCAGACCCC

Phenotype

MIM: 609577 MIM: 613475

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CUL7 PubMed Links

Gene Details

Gene

CUL7

Gene Name

cullin 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168370.1	5237	Missense Mutation	ATC,GTC	I1705V	NP_001161842.1
NM_014780.4	5237	Missense Mutation	ATC,GTC	I1621V	NP_055595.2
XM_005249503.2	5237	Missense Mutation	ATC,GTC	I1673V	XP_005249560.1
XM_006715285.1	5237	Missense Mutation	ATC,GTC	I1657V	XP_006715348.1
XM_011515019.2	5237	Missense Mutation	ATC,GTC	I1709V	XP_011513321.1
XM_011515020.2	5237	Missense Mutation	ATC,GTC	I1677V	XP_011513322.1
XM_011515021.1	5237	Missense Mutation	ATC,GTC	I912V	XP_011513323.1
XM_017011533.1	5237	Missense Mutation	ATC,GTC	I1718V	XP_016867022.1
XM_017011534.1	5237	Missense Mutation	ATC,GTC	I1714V	XP_016867023.1
XM_017011535.1	5237	Missense Mutation	ATC,GTC	I1686V	XP_016867024.1
XM_017011536.1	5237	Missense Mutation	ATC,GTC	I1666V	XP_016867025.1
XM_017011537.1	5237	Missense Mutation	ATC,GTC	I1653V	XP_016867026.1
XM_017011538.1	5237	Missense Mutation	ATC,GTC	I1634V	XP_016867027.1
XM_017011539.1	5237	Missense Mutation	ATC,GTC	I1625V	XP_016867028.1
XM_017011540.1	5237	Intron			XP_016867029.1

Gene

RRP36

Gene Name

ribosomal RNA processing 36

There are no transcripts associated with this gene.

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