Product Details

SNP ID

rs12852407

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:47176541 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGCCAGAAGGTGTCGATGCACTA[A/C]AGTGACCCCAAGCCCAAGATCAATG

Phenotype

MIM: 300080

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

RBM10 PubMed Links

Gene Details

Gene

RBM10

Gene Name

RNA binding motif protein 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204466.1	706	Nonsense Mutation	TAA,TAC	*129Y	NP_001191395.1
NM_001204467.1	706	Nonsense Mutation	TAA,TAC	*206Y	NP_001191396.1
NM_001204468.1	706	Nonsense Mutation	TAA,TAC	*271Y	NP_001191397.1
NM_005676.4	706	Nonsense Mutation	TAA,TAC	*206Y	NP_005667.2
NM_152856.2	706	Nonsense Mutation	TAA,TAC	*129Y	NP_690595.1
XM_005272677.4	706	Nonsense Mutation	TAA,TAC	*271Y	XP_005272734.1
XM_005272678.4	706	Nonsense Mutation	TAA,TAC	*194Y	XP_005272735.1
XM_005272679.4	706	Nonsense Mutation	TAA,TAC	*194Y	XP_005272736.1
XM_006724563.1	706	Nonsense Mutation	TAA,TAC	*3Y	XP_006724626.1
XM_011543989.2	706	Intron			XP_011542291.1
XM_017029884.1	706	Nonsense Mutation	TAA,TAC	*3Y	XP_016885373.1
XM_017029885.1	706	Nonsense Mutation	TAA,TAC	*3Y	XP_016885374.1

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