Product Details

SNP ID

rs200456838

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:48550554 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGGCAGGGGGCGGCAGCGGATCC[A/G]CGTAGCCGCCCCCGCCCACGTACAC

Phenotype

MIM: 142967 MIM: 142966

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HOXB-AS1 PubMed Links

Gene Details

Gene

HOXB-AS1

Gene Name

HOXB cluster antisense RNA 1

There are no transcripts associated with this gene.

Gene

HOXB2

Gene Name

homeobox B2

There are no transcripts associated with this gene.

Gene

HOXB3

Gene Name

homeobox B3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002146.4	11474	Missense Mutation	GCG,GTG	A359V	NP_002137.4
XM_005257277.3	11474	Missense Mutation	GCG,GTG	A359V	XP_005257334.1
XM_005257280.3	11474	Missense Mutation	GCG,GTG	A286V	XP_005257337.1
XM_005257282.3	11474	Missense Mutation	GCG,GTG	A227V	XP_005257339.1
XM_006721854.2	11474	Missense Mutation	GCG,GTG	A359V	XP_006721917.1
XM_011524707.2	11474	Missense Mutation	GCG,GTG	A506V	XP_011523009.1
XM_011524708.2	11474	Missense Mutation	GCG,GTG	A416V	XP_011523010.1
XM_011524710.1	11474	Missense Mutation	GCG,GTG	A359V	XP_011523012.1
XM_011524719.1	11474	Missense Mutation	GCG,GTG	A359V	XP_011523021.1
XM_011524720.2	11474	Missense Mutation	GCG,GTG	A359V	XP_011523022.1
XM_011524721.2	11474	Missense Mutation	GCG,GTG	A358V	XP_011523023.1
XM_011524726.2	11474	Missense Mutation	GCG,GTG	A286V	XP_011523028.1
XM_017024557.1	11474	Missense Mutation	GCG,GTG	A506V	XP_016880046.1
XM_017024558.1	11474	Missense Mutation	GCG,GTG	A506V	XP_016880047.1
XM_017024559.1	11474	Missense Mutation	GCG,GTG	A506V	XP_016880048.1
XM_017024560.1	11474	Missense Mutation	GCG,GTG	A506V	XP_016880049.1
XM_017024561.1	11474	Missense Mutation	GCG,GTG	A506V	XP_016880050.1
XM_017024562.1	11474	Missense Mutation	GCG,GTG	A506V	XP_016880051.1
XM_017024563.1	11474	Missense Mutation	GCG,GTG	A506V	XP_016880052.1

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