Product Details

SNP ID

rs147425326

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:48550776 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGGGTGGGGACGGGCTCTCGTAG[C/T]TGGGGGTCATGGAGTGTAAGGCGTT

Phenotype

MIM: 142967 MIM: 142966

Polymorphism

C/T, 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	11252	Missense Mutation	AAC,AGC	N285S	NP_002137.4
XM_005257277.3	11252	Missense Mutation	AAC,AGC	N285S	XP_005257334.1
XM_005257280.3	11252	Missense Mutation	AAC,AGC	N212S	XP_005257337.1
XM_005257282.3	11252	Missense Mutation	AAC,AGC	N153S	XP_005257339.1
XM_006721854.2	11252	Missense Mutation	AAC,AGC	N285S	XP_006721917.1
XM_011524707.2	11252	Missense Mutation	AAC,AGC	N432S	XP_011523009.1
XM_011524708.2	11252	Missense Mutation	AAC,AGC	N342S	XP_011523010.1
XM_011524710.1	11252	Missense Mutation	AAC,AGC	N285S	XP_011523012.1
XM_011524719.1	11252	Missense Mutation	AAC,AGC	N285S	XP_011523021.1
XM_011524720.2	11252	Missense Mutation	AAC,AGC	N285S	XP_011523022.1
XM_011524721.2	11252	Missense Mutation	AAC,AGC	N284S	XP_011523023.1
XM_011524726.2	11252	Missense Mutation	AAC,AGC	N212S	XP_011523028.1
XM_017024557.1	11252	Missense Mutation	AAC,AGC	N432S	XP_016880046.1
XM_017024558.1	11252	Missense Mutation	AAC,AGC	N432S	XP_016880047.1
XM_017024559.1	11252	Missense Mutation	AAC,AGC	N432S	XP_016880048.1
XM_017024560.1	11252	Missense Mutation	AAC,AGC	N432S	XP_016880049.1
XM_017024561.1	11252	Missense Mutation	AAC,AGC	N432S	XP_016880050.1
XM_017024562.1	11252	Missense Mutation	AAC,AGC	N432S	XP_016880051.1
XM_017024563.1	11252	Missense Mutation	AAC,AGC	N432S	XP_016880052.1

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