Product Details

SNP ID

rs200597470

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:66754740 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTATTTCTTCTCTAAGTAATCAT[A/G]AATTTTGGCGAAAGGAAATTCATGG

Phenotype

MIM: 611540

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SGIP1 PubMed Links

Gene Details

Gene

SGIP1

Gene Name

SH3 domain GRB2 like endophilin interacting protein 1

There are no transcripts associated with this gene.

Gene

TCTEX1D1

Gene Name

Tctex1 domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152665.2	213	Missense Mutation	AAA,GAA	K28E	NP_689878.2
XM_011540933.2	213	UTR 5			XP_011539235.1
XM_017000566.1	213	Missense Mutation	AAA,GAA	K28E	XP_016856055.1

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