Product Details

SNP ID

rs202166182

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:58840352 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTATTCCCTGAGTCCCCCGAATC[A/G]GAATCTGACCACGAGCACGAGGAGG

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	672	Intron			NP_000507.1
NM_001077488.3	672	Intron			NP_001070956.1
NM_001077489.3	672	Intron			NP_001070957.1
NM_001077490.2	672	Intron			NP_001070958.1
NM_001309840.1	672	Intron			NP_001296769.1
NM_001309842.1	672	Intron			NP_001296771.1
NM_001309861.1	672	Intron			NP_001296790.1
NM_001309883.1	672	Intron			NP_001296812.1
NM_016592.3	672	Silent Mutation	TCA,TCG	S82S	NP_057676.1
NM_080425.3	672	Intron			NP_536350.2
NM_080426.3	672	Intron			NP_536351.1
XM_017027812.1	672	Intron			XP_016883301.1
XM_017027813.1	672	Intron			XP_016883302.1
XM_017027814.1	672	Intron			XP_016883303.1
XM_017027815.1	672	Intron			XP_016883304.1
XM_017027816.1	672	Intron			XP_016883305.1
XM_017027817.1	672	Intron			XP_016883306.1
XM_017027818.1	672	Intron			XP_016883307.1
XM_017027819.1	672	Intron			XP_016883308.1
XM_017027820.1	672	Intron			XP_016883309.1
XM_017027821.1	672	Silent Mutation	TCA,TCG	S82S	XP_016883310.1
XM_017027822.1	672	Silent Mutation	TCA,TCG	S82S	XP_016883311.1

Gene

GNAS-AS1

Gene Name

GNAS antisense RNA 1

There are no transcripts associated with this gene.

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