Product Details

SNP ID

rs514024

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.9:127741791 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

AGCTCTGCGCGGCTCTCAGTACCTG[A/G]GCCATGTCCAGGGCACCCATGACCG

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	1735	Silent Mutation	GCC,GCT	A341A	NP_001136003.1
NM_001142532.1	1735	Silent Mutation	GCC,GCT	A341A	NP_001136004.1
NM_001142533.1	1735	Silent Mutation	GCC,GCT	A537A	NP_001136005.1
NM_001142534.1	1735	Silent Mutation	GCC,GCT	A535A	NP_001136006.1
NM_001252334.1	1735	Silent Mutation	GCC,GCT	A627A	NP_001239263.1
NM_005489.3	1735	Silent Mutation	GCC,GCT	A538A	NP_005480.2
NM_170600.2	1735	Silent Mutation	GCC,GCT	A695A	NP_733745.1
XM_005251639.1	1735	Silent Mutation	GCC,GCT	A341A	XP_005251696.1
XM_011518114.1	1735	Silent Mutation	GCC,GCT	A639A	XP_011516416.1
XM_011518115.1	1735	Silent Mutation	GCC,GCT	A639A	XP_011516417.1
XM_011518117.2	1735	Silent Mutation	GCC,GCT	A341A	XP_011516419.1
XM_017014174.1	1735	Silent Mutation	GCC,GCT	A341A	XP_016869663.1

Gene

TOR2A

Gene Name

torsin family 2 member A

There are no transcripts associated with this gene.

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