Product Details

SNP ID

rs202018008

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:48550522 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGAAAGGTGGTTGAGGCCATAGA[A/G]GGAGGGGCCGGCAGGGGGCGGCAGC

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	11506	Missense Mutation	CTC,TTC	L370F	NP_002137.4
XM_005257277.3	11506	Missense Mutation	CTC,TTC	L370F	XP_005257334.1
XM_005257280.3	11506	Missense Mutation	CTC,TTC	L297F	XP_005257337.1
XM_005257282.3	11506	Missense Mutation	CTC,TTC	L238F	XP_005257339.1
XM_006721854.2	11506	Missense Mutation	CTC,TTC	L370F	XP_006721917.1
XM_011524707.2	11506	Missense Mutation	CTC,TTC	L517F	XP_011523009.1
XM_011524708.2	11506	Missense Mutation	CTC,TTC	L427F	XP_011523010.1
XM_011524710.1	11506	Missense Mutation	CTC,TTC	L370F	XP_011523012.1
XM_011524719.1	11506	Missense Mutation	CTC,TTC	L370F	XP_011523021.1
XM_011524720.2	11506	Missense Mutation	CTC,TTC	L370F	XP_011523022.1
XM_011524721.2	11506	Missense Mutation	CTC,TTC	L369F	XP_011523023.1
XM_011524726.2	11506	Missense Mutation	CTC,TTC	L297F	XP_011523028.1
XM_017024557.1	11506	Missense Mutation	CTC,TTC	L517F	XP_016880046.1
XM_017024558.1	11506	Missense Mutation	CTC,TTC	L517F	XP_016880047.1
XM_017024559.1	11506	Missense Mutation	CTC,TTC	L517F	XP_016880048.1
XM_017024560.1	11506	Missense Mutation	CTC,TTC	L517F	XP_016880049.1
XM_017024561.1	11506	Missense Mutation	CTC,TTC	L517F	XP_016880050.1
XM_017024562.1	11506	Missense Mutation	CTC,TTC	L517F	XP_016880051.1
XM_017024563.1	11506	Missense Mutation	CTC,TTC	L517F	XP_016880052.1

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