Product Details

SNP ID

rs200951769

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:127741826 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGCACCCATGACCGCCGCGAAGC[C/T]GAACATGTTGCCCATAGTCCCCCGC

Phenotype

MIM: 604722 MIM: 608052

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SH2D3C PubMed Links

Gene Details

Gene

SH2D3C

Gene Name

SH2 domain containing 3C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142531.1	1700	Missense Mutation	AGC,GGC	S330G	NP_001136003.1
NM_001142532.1	1700	Missense Mutation	AGC,GGC	S330G	NP_001136004.1
NM_001142533.1	1700	Missense Mutation	AGC,GGC	S526G	NP_001136005.1
NM_001142534.1	1700	Missense Mutation	AGC,GGC	S524G	NP_001136006.1
NM_001252334.1	1700	Missense Mutation	AGC,GGC	S616G	NP_001239263.1
NM_005489.3	1700	Missense Mutation	AGC,GGC	S527G	NP_005480.2
NM_170600.2	1700	Missense Mutation	AGC,GGC	S684G	NP_733745.1
XM_005251639.1	1700	Missense Mutation	AGC,GGC	S330G	XP_005251696.1
XM_011518114.1	1700	Missense Mutation	AGC,GGC	S628G	XP_011516416.1
XM_011518115.1	1700	Missense Mutation	AGC,GGC	S628G	XP_011516417.1
XM_011518117.2	1700	Missense Mutation	AGC,GGC	S330G	XP_011516419.1
XM_017014174.1	1700	Missense Mutation	AGC,GGC	S330G	XP_016869663.1

Gene

TOR2A

Gene Name

torsin family 2 member A

There are no transcripts associated with this gene.

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