Product Details

SNP ID: hCV27862934
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:48688056 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCAAAAAAAGAGATAGGTGCCATGC[A/G]GGTGAAATCGGTGAAGATGAGGATT
Phenotype: MIM: 605358 MIM: 152790
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: GTF2A1L PubMed Links

Gene Details

Gene: GTF2A1L
Gene Name: general transcription factor IIA subunit 1 like

There are no transcripts associated with this gene.

Gene: LHCGR
Gene Name: luteinizing hormone/choriogonadotropin receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000233.3	1811	Missense Mutation	CGC,TGC	R581C	NP_000224.2

Gene: STON1-GTF2A1L
Gene Name: STON1-GTF2A1L readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198593.1	1811	Intron			NP_001185522.1
NM_001198594.1	1811	Intron			NP_001185523.1
NM_172311.2	1811	Intron			NP_758515.1

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