Product Details

SNP ID

rs138979528

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17271633 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACCTGTCAGAGGAAATGTCACTG[A/C]CAAAGCTGGAGTCGTTCAACGGGTA

Phenotype

MIM: 612766 MIM: 611810

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

BABAM1 PubMed Links

Gene Details

Gene

BABAM1

Gene Name

BRISC and BRCA1 A complex member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033549.2	525	Missense Mutation	ACA,CCA	T108P	NP_001028721.1
NM_001288756.1	525	Missense Mutation	ACA,CCA	T108P	NP_001275685.1
NM_001288757.1	525	Missense Mutation	ACA,CCA	T108P	NP_001275686.1
NM_014173.3	525	Missense Mutation	ACA,CCA	T108P	NP_054892.2

Gene

USHBP1

Gene Name

USH1 protein network component harmonin binding protein 1

There are no transcripts associated with this gene.

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