Product Details

SNP ID: rs200744648
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.9:127732599 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTCCAGCACCGCGCGGGAGATGACC[A/G]GCTCCAGCTCCTGCAGGAGGATCTC
Phenotype: MIM: 604722 MIM: 608052
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: SH2D3C PubMed Links

Gene Details

Gene: SH2D3C
Gene Name: SH2 domain containing 3C

There are no transcripts associated with this gene.

Gene: TOR2A
Gene Name: torsin family 2 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001085347.2	800	Missense Mutation	CCG,CTG	P229L	NP_001078816.1
NM_001134430.2	800	Intron			NP_001127902.1
NM_001134431.2	800	UTR 3			NP_001127903.1
NM_001252018.1	800	Missense Mutation	CCG,CTG	P67L	NP_001238947.1
NM_001252021.1	800	Missense Mutation	CCG,CTG	P67L	NP_001238950.1
NM_001252023.1	800	Intron			NP_001238952.1
NM_130459.3	800	UTR 3			NP_569726.2
XM_011518554.1	800	Missense Mutation	CCG,CTG	P228L	XP_011516856.1

Gene: TTC16
Gene Name: tetratricopeptide repeat domain 16

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317037.1	800	Intron			NP_001303966.1
NM_144965.2	800	Intron			NP_659402.1
XM_005251733.1	800	Intron			XP_005251790.1
XM_005251734.1	800	Intron			XP_005251791.1
XM_006716970.1	800	Intron			XP_006717033.1
XM_006716971.1	800	Intron			XP_006717034.1
XM_011518283.1	800	Intron			XP_011516585.1
XM_011518284.1	800	Intron			XP_011516586.1
XM_011518285.1	800	Intron			XP_011516587.1
XM_011518288.1	800	Intron			XP_011516590.1
XM_011518289.2	800	Intron			XP_011516591.1
XM_011518290.1	800	Intron			XP_011516592.1
XM_011518291.1	800	Intron			XP_011516593.1
XM_011518292.1	800	Intron			XP_011516594.1
XM_011518293.1	800	Intron			XP_011516595.1
XM_011518294.2	800	Intron			XP_011516596.1
XM_011518295.1	800	Intron			XP_011516597.1
XM_011518297.1	800	Intron			XP_011516599.1
XM_011518298.2	800	Intron			XP_011516600.1

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