Product Details

SNP ID

rs111033630

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:124365787 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATCACGGTTACATTTATACATACC[G/T]AGTGTCCCAGACAGAAACAGGTTCT

Phenotype

MIM: 300490 MIM: 300588

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

SH2D1A PubMed Links

Gene Details

Gene

SH2D1A

Gene Name

SH2 domain containing 1A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114937.2	525	Missense Mutation	CGA,CTA	R55L	NP_001108409.1
NM_002351.4	525	Missense Mutation	CGA,CTA	R55L	NP_002342.1

Gene

TENM1

Gene Name

teneurin transmembrane protein 1

There are no transcripts associated with this gene.

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