Product Details

SNP ID

rs146988131

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:75349026 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCGCAACCCTGAGGTGCCCTTT[C/G]AGAGCAGTGCCTACCGCATCTCAGC

Phenotype

MIM: 616701 MIM: 154580 MIM: 608844

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

COMMD4 PubMed Links

Gene Details

Gene

COMMD4

Gene Name

COMM domain containing 4

There are no transcripts associated with this gene.

Gene

MAN2C1

Gene Name

mannosidase alpha class 2C member 1

There are no transcripts associated with this gene.

Gene

MIR631

Gene Name

microRNA 631

There are no transcripts associated with this gene.

Gene

NEIL1

Gene Name

nei like DNA glycosylase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256552.1	546	Missense Mutation	CAG,GAG	Q127E	NP_001243481.1
NM_024608.3	546	Missense Mutation	CAG,GAG	Q41E	NP_078884.2
XM_005254659.4	546	Missense Mutation	CAG,GAG	Q41E	XP_005254716.1
XM_006720677.3	546	Missense Mutation	CAG,GAG	Q118E	XP_006720740.1
XM_006720678.3	546	Missense Mutation	CAG,GAG	Q127E	XP_006720741.1
XM_006720679.3	546	Missense Mutation	CAG,GAG	Q84E	XP_006720742.1
XM_006720680.1	546	Missense Mutation	CAG,GAG	Q41E	XP_006720743.1
XM_006720681.1	546	Missense Mutation	CAG,GAG	Q41E	XP_006720744.1
XM_011522001.2	546	Missense Mutation	CAG,GAG	Q104E	XP_011520303.2
XM_011522002.1	546	Missense Mutation	CAG,GAG	Q41E	XP_011520304.1
XM_011522003.2	546	Missense Mutation	CAG,GAG	Q41E	XP_011520305.1
XM_011522004.2	546	Missense Mutation	CAG,GAG	Q41E	XP_011520306.1
XM_011522005.1	546	UTR 5			XP_011520307.1
XM_011522006.1	546	UTR 5			XP_011520308.1
XM_011522007.1	546	UTR 5			XP_011520309.1
XM_011522008.1	546	UTR 5			XP_011520310.1
XM_017022566.1	546	Missense Mutation	CAG,GAG	Q118E	XP_016878055.1
XM_017022567.1	546	UTR 5			XP_016878056.1
XM_017022568.1	546	Missense Mutation	CAG,GAG	Q127E	XP_016878057.1

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