Product Details

SNP ID

rs138189803

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:127739775 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTGAGCCAGCACCACCTCCACGC[C/T]GTGCTCCGTGCTGCCCCAGGGCTCA

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	1964	Missense Mutation	AGC,GGC	S418G	NP_001136003.1
NM_001142532.1	1964	Missense Mutation	AGC,GGC	S418G	NP_001136004.1
NM_001142533.1	1964	Missense Mutation	AGC,GGC	S614G	NP_001136005.1
NM_001142534.1	1964	Missense Mutation	AGC,GGC	S612G	NP_001136006.1
NM_001252334.1	1964	Missense Mutation	AGC,GGC	S704G	NP_001239263.1
NM_005489.3	1964	Missense Mutation	AGC,GGC	S615G	NP_005480.2
NM_170600.2	1964	Missense Mutation	AGC,GGC	S772G	NP_733745.1
XM_005251639.1	1964	Missense Mutation	AGC,GGC	S418G	XP_005251696.1
XM_011518114.1	1964	Missense Mutation	AGC,GGC	S716G	XP_011516416.1
XM_011518115.1	1964	Missense Mutation	AGC,GGC	S716G	XP_011516417.1
XM_011518117.2	1964	Missense Mutation	AGC,GGC	S418G	XP_011516419.1
XM_017014174.1	1964	Missense Mutation	AGC,GGC	S418G	XP_016869663.1

Gene

TOR2A

Gene Name

torsin family 2 member A

There are no transcripts associated with this gene.

Gene

TTC16

Gene Name

tetratricopeptide repeat domain 16

There are no transcripts associated with this gene.

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