Product Details

SNP ID

rs199534645

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:58840470 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGACCGAGTCCGAAATCGAGTCC[A/G]AGACCGACTTCGAGACCGAGCCTGA

Phenotype

MIM: 139320 MIM: 610540

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GNAS PubMed Links

Gene Details

Gene

GNAS

Gene Name

GNAS complex locus

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000516.5	790	Intron			NP_000507.1
NM_001077488.3	790	Intron			NP_001070956.1
NM_001077489.3	790	Intron			NP_001070957.1
NM_001077490.2	790	Intron			NP_001070958.1
NM_001309840.1	790	Intron			NP_001296769.1
NM_001309842.1	790	Intron			NP_001296771.1
NM_001309861.1	790	Intron			NP_001296790.1
NM_001309883.1	790	Intron			NP_001296812.1
NM_016592.3	790	Missense Mutation	AAG,GAG	K122E	NP_057676.1
NM_080425.3	790	Intron			NP_536350.2
NM_080426.3	790	Intron			NP_536351.1
XM_017027812.1	790	Intron			XP_016883301.1
XM_017027813.1	790	Intron			XP_016883302.1
XM_017027814.1	790	Intron			XP_016883303.1
XM_017027815.1	790	Intron			XP_016883304.1
XM_017027816.1	790	Intron			XP_016883305.1
XM_017027817.1	790	Intron			XP_016883306.1
XM_017027818.1	790	Intron			XP_016883307.1
XM_017027819.1	790	Intron			XP_016883308.1
XM_017027820.1	790	Intron			XP_016883309.1
XM_017027821.1	790	Missense Mutation	AAG,GAG	K122E	XP_016883310.1
XM_017027822.1	790	Missense Mutation	AAG,GAG	K122E	XP_016883311.1

Gene

GNAS-AS1

Gene Name

GNAS antisense RNA 1

There are no transcripts associated with this gene.

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