Product Details

SNP ID

rs201175971

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:62678574 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGAGTCTCTAAAGGCTCGTCCAC[A/G]TCGGGGTCGTCTTCGTGCTCCATCA

Phenotype

MIM: 616378 MIM: 616097

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LBHD1 PubMed Links

Gene Details

Gene

LBHD1

Gene Name

LBH domain containing 1

There are no transcripts associated with this gene.

Gene

LRRN4CL

Gene Name

LRRN4 C-terminal like

There are no transcripts associated with this gene.

Gene

UBXN1

Gene Name

UBX domain protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286077.1	244	Silent Mutation	GAC,GAT	D47D	NP_001273006.1
NM_001286078.1	244	Intron			NP_001273007.1
NM_015853.4	244	Silent Mutation	GAC,GAT	D47D	NP_056937.2
XM_005274033.4	244	Silent Mutation	GAC,GAT	D47D	XP_005274090.1
XM_011545090.2	244	Silent Mutation	GAC,GAT	D47D	XP_011543392.1
XM_017017874.1	244	Silent Mutation	GAC,GAT	D47D	XP_016873363.1

Gene

UQCC3

Gene Name

ubiquinol-cytochrome c reductase complex assembly factor 3

There are no transcripts associated with this gene.

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