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SNP ID

rs200184901

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:48622974 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTGAAACCAGATTTTGACTTGTC[C/T]CTCACTCAGATTGAGGAGTCTGGCC

Phenotype

MIM: 142963 MIM: 142964 MIM: 608632

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HOXB8 PubMed Links

Gene Details

Gene

HOXB8

Gene Name

homeobox B8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024016.3	883	Intron			NP_076921.1
XM_005257286.2	883	Intron			XP_005257343.1
XM_017024564.1	883	Intron			XP_016880053.1

Gene

HOXB9

Gene Name

homeobox B9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024017.4	883	Missense Mutation	AGA,GGA	R227G	NP_076922.1

Gene

MIR196A1

Gene Name

microRNA 196a-1

There are no transcripts associated with this gene.

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