Product Details

SNP ID

rs75246647

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:27080194 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGACCCGGACAGTGAGCTGTGTC[C/G]TTGAGGATGGAGTGGAGACATATGT

Phenotype

MIM: 615900 MIM: 130660 MIM: 614058

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

AGBL5 PubMed Links

Gene Details

Gene

AGBL5

Gene Name

ATP/GTP binding protein like 5

There are no transcripts associated with this gene.

Gene

EMILIN1

Gene Name

elastin microfibril interfacer 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007046.3	713	Missense Mutation	CTT,GTT	L72V	NP_008977.1

Gene

KHK

Gene Name

ketohexokinase

There are no transcripts associated with this gene.

Gene

OST4

Gene Name

oligosaccharyltransferase complex subunit 4, non-catalytic

There are no transcripts associated with this gene.

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