Product Details

SNP ID

rs201758152

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:127739882 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAAACGTGGTGTTGCTCAGCGGC[A/G]GGCCTTCTGCAAGGAGAAAGGCAGC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142531.1	1857	Missense Mutation	CCG,CTG	P382L	NP_001136003.1
NM_001142532.1	1857	Missense Mutation	CCG,CTG	P382L	NP_001136004.1
NM_001142533.1	1857	Missense Mutation	CCG,CTG	P578L	NP_001136005.1
NM_001142534.1	1857	Missense Mutation	CCG,CTG	P576L	NP_001136006.1
NM_001252334.1	1857	Missense Mutation	CCG,CTG	P668L	NP_001239263.1
NM_005489.3	1857	Missense Mutation	CCG,CTG	P579L	NP_005480.2
NM_170600.2	1857	Missense Mutation	CCG,CTG	P736L	NP_733745.1
XM_005251639.1	1857	Missense Mutation	CCG,CTG	P382L	XP_005251696.1
XM_011518114.1	1857	Missense Mutation	CCG,CTG	P680L	XP_011516416.1
XM_011518115.1	1857	Missense Mutation	CCG,CTG	P680L	XP_011516417.1
XM_011518117.2	1857	Missense Mutation	CCG,CTG	P382L	XP_011516419.1
XM_017014174.1	1857	Missense Mutation	CCG,CTG	P382L	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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