Product Details

SNP ID

rs189183340

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:151176570 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGCCTTGGAATCTGACCTGCAGA[A/G]TTTCAGGAGTCACCAGGCCGACGGC

Phenotype

MIM: 615054 MIM: 603354

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ASB10 PubMed Links

Gene Details

Gene

ASB10

Gene Name

ankyrin repeat and SOCS box containing 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142459.1	1472	Missense Mutation	ACT,ATT	T404I	NP_001135931.2
NM_001142460.1	1472	Intron			NP_001135932.2
NM_080871.3	1472	Missense Mutation	ACT,ATT	T389I	NP_543147.2

Gene

GBX1

Gene Name

gastrulation brain homeobox 1

There are no transcripts associated with this gene.

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