Product Details

SNP ID

rs146024949

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:107180008 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCATTGGAGTTGCTGCAGTGTAAT[A/G]AGAATTTGCCATCTTCACCTGGATA

Phenotype

MIM: 616714

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HBP1 PubMed Links

Gene Details

Gene

HBP1

Gene Name

HMG-box transcription factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001244262.1	301	Missense Mutation	AAG,GAG	K49E	NP_001231191.1
NM_012257.3	301	Missense Mutation	AAG,GAG	K39E	NP_036389.2
XM_005250266.2	301	Missense Mutation	AAG,GAG	K39E	XP_005250323.1
XM_005250267.2	301	Missense Mutation	AAG,GAG	K39E	XP_005250324.1
XM_017011967.1	301	Missense Mutation	AAG,GAG	K39E	XP_016867456.1

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