Product Details

SNP ID

rs148123280

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:89368623 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAACAATGAGCAGCTATTGGTGAA[A/C]CAGCAAGCTATACAGATTCTTGAAA

Phenotype

MIM: 612467

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

GBP6 PubMed Links

Gene Details

Gene

GBP6

Gene Name

guanylate binding protein family member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320257.1	175	Intron			NP_001307186.1
NM_198460.2	175	Missense Mutation	AAA,AAC	K24N	NP_940862.2
XM_011540835.2	175	Missense Mutation	AAA,AAC	K24N	XP_011539137.1

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