Product Details

SNP ID

rs138429382

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:1616568 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGTTTCCAGGCATCAGGGCTGCAG[C/G]CCAGGAGCCTCAAGGCGGCCCGGCG

Phenotype

MIM: 611141

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

MIB2 PubMed Links

Gene Details

Gene

MIB2

Gene Name

mindbomb E3 ubiquitin protein ligase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001170686.1	297	Missense Mutation	CCC,GCC	P79A	NP_001164157.1
NM_001170687.1	297	Missense Mutation	CCC,GCC	P79A	NP_001164158.1
NM_001170688.1	297	Missense Mutation	CCC,GCC	P79A	NP_001164159.1
NM_001170689.1	297	UTR 5			NP_001164160.1
NM_080875.2	297	Missense Mutation	CCC,GCC	P79A	NP_543151.2
XM_006710372.1	297	Missense Mutation	CCC,GCC	P79A	XP_006710435.1
XM_011540731.2	297	Missense Mutation	AGC,AGG	S234R	XP_011539033.1
XM_011540736.2	297	Missense Mutation	AGC,AGG	S234R	XP_011539038.1
XM_011540737.2	297	Missense Mutation	AGC,AGG	S234R	XP_011539039.1
XM_011540741.2	297	Missense Mutation	AGC,AGG	S234R	XP_011539043.1
XM_011540742.2	297	Missense Mutation	AGC,AGG	S234R	XP_011539044.1
XM_017000349.1	297	Missense Mutation	AGC,AGG	S234R	XP_016855838.1
XM_017000350.1	297	Missense Mutation	AGC,AGG	S234R	XP_016855839.1
XM_017000351.1	297	Missense Mutation	AGC,AGG	S228R	XP_016855840.1
XM_017000352.1	297	Missense Mutation	AGC,AGG	S234R	XP_016855841.1
XM_017000353.1	297	Missense Mutation	AGC,AGG	S234R	XP_016855842.1
XM_017000354.1	297	Missense Mutation	AGC,AGG	S234R	XP_016855843.1
XM_017000355.1	297	Missense Mutation	AGC,AGG	S234R	XP_016855844.1
XM_017000356.1	297	Missense Mutation	AGC,AGG	S234R	XP_016855845.1
XM_017000357.1	297	Missense Mutation	AGC,AGG	S234R	XP_016855846.1
XM_017000358.1	297	Missense Mutation	CCC,GCC	P79A	XP_016855847.1
XM_017000359.1	297	Missense Mutation	CCC,GCC	P79A	XP_016855848.1
XM_017000360.1	297	Missense Mutation	CCC,GCC	P79A	XP_016855849.1
XM_017000361.1	297	Missense Mutation	CCC,GCC	P79A	XP_016855850.1
XM_017000362.1	297	UTR 5			XP_016855851.1
XM_017000363.1	297	UTR 5			XP_016855852.1
XM_017000364.1	297	Missense Mutation	CCC,GCC	P79A	XP_016855853.1
XM_017000365.1	297	UTR 5			XP_016855854.1
XM_017000366.1	297	UTR 5			XP_016855855.1

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