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SNP ID: rs121912520
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:48688020 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACTGTGATAAGAGGTACTTTGAAGG[C/G]AGCTGAGATGGCAAAAAAAGAGATA
Phenotype: MIM: 605358 MIM: 152790
Polymorphism: C/G, Transversion 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	1573	Missense Mutation	CCC,GCC	P593A	NP_000224.2
XM_005264309.3	1573	Missense Mutation	CCC,GCC	P274A	XP_005264366.1
XM_006712015.3	1573	Missense Mutation	CCC,GCC	P283A	XP_006712078.1
XM_011532828.1	1573	Missense Mutation	CCC,GCC	P568A	XP_011531130.1
XM_011532831.1	1573	Missense Mutation	CCC,GCC	P381A	XP_011531133.1
XM_011532834.2	1573	Missense Mutation	CCC,GCC	P274A	XP_011531136.1
XM_017004089.1	1573	Missense Mutation	CCC,GCC	P508A	XP_016859578.1
XM_017004090.1	1573	Missense Mutation	CCC,GCC	P381A	XP_016859579.1

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198593.1	1573	Intron			NP_001185522.1
NM_001198594.1	1573	Intron			NP_001185523.1
NM_172311.2	1573	Intron			NP_758515.1

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