Product Details

SNP ID

rs121912641

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:180271856 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGGTTTGGTTTCAGAACAGAAGG[C/G]CCAAAGAGAAACGCCTGAAGAAGGA

Phenotype

MIM: 616352 MIM: 602146

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ACBD6 PubMed Links

Gene Details

Gene

ACBD6

Gene Name

acyl-CoA binding domain containing 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032360.3	1094	Intron			NP_115736.1

Gene

LHX4

Gene Name

LIM homeobox 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033343.3	1094	Missense Mutation	CCC,GCC	P210A	NP_203129.1
XM_011510105.2	1094	Missense Mutation	CCC,GCC	P149A	XP_011508407.1
XM_011510106.2	1094	Missense Mutation	CCC,GCC	P149A	XP_011508408.1
XM_011510108.2	1094	Missense Mutation	CCC,GCC	P135A	XP_011508410.1
XM_017002755.1	1094	Missense Mutation	CCC,GCC	P135A	XP_016858244.1

Gene

LHX4-AS1

Gene Name

LHX4 antisense RNA 1

There are no transcripts associated with this gene.

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