Product Details

SNP ID

rs145622720

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:127741889 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTGAATGGTCTTGTGCAGCAGCG[C/T]TGCCCGCTCCTCCGCAGAGCCGGTG

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	1637	Missense Mutation	ACG,GCG	T309A	NP_001136003.1
NM_001142532.1	1637	Missense Mutation	ACG,GCG	T309A	NP_001136004.1
NM_001142533.1	1637	Missense Mutation	ACG,GCG	T505A	NP_001136005.1
NM_001142534.1	1637	Missense Mutation	ACG,GCG	T503A	NP_001136006.1
NM_001252334.1	1637	Missense Mutation	ACG,GCG	T595A	NP_001239263.1
NM_005489.3	1637	Missense Mutation	ACG,GCG	T506A	NP_005480.2
NM_170600.2	1637	Missense Mutation	ACG,GCG	T663A	NP_733745.1
XM_005251639.1	1637	Missense Mutation	ACG,GCG	T309A	XP_005251696.1
XM_011518114.1	1637	Missense Mutation	ACG,GCG	T607A	XP_011516416.1
XM_011518115.1	1637	Missense Mutation	ACG,GCG	T607A	XP_011516417.1
XM_011518117.2	1637	Missense Mutation	ACG,GCG	T309A	XP_011516419.1
XM_017014174.1	1637	Missense Mutation	ACG,GCG	T309A	XP_016869663.1

Gene

TOR2A

Gene Name

torsin family 2 member A

There are no transcripts associated with this gene.

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