Product Details

SNP ID

rs201114749

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:4282919 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCCCTTTGATGCTCAGCCTCATC[C/T]TGCACCCCCGGATGATGGGTACATG

Phenotype

MIM: 610481 MIM: 614715

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SHD PubMed Links

Gene Details

Gene

SHD

Gene Name

Src homology 2 domain containing transforming protein D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020209.3	1810	Missense Mutation	CCT,CTT	P116L	NP_064594.3

Gene

TMIGD2

Gene Name

transmembrane and immunoglobulin domain containing 2

There are no transcripts associated with this gene.

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