Product Details

SNP ID

rs201561325

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:34943102 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGCAACAGGGACATCGTGGAGAC[A/G]GTGCTCAACCTGGTAAGGAAAAGGC

Phenotype

MIM: 604889

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NBEA PubMed Links

Gene Details

Gene

NBEA

Gene Name

neurobeachin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204197.1	816	Intron			NP_001191126.1
NM_015678.4	816	Silent Mutation	ACA,ACG	T94T	NP_056493.3
XM_005266346.4	816	Silent Mutation	ACA,ACG	T94T	XP_005266403.1
XM_005266347.4	816	Silent Mutation	ACA,ACG	T94T	XP_005266404.2
XM_005266348.4	816	Silent Mutation	ACA,ACG	T94T	XP_005266405.2
XM_006719803.3	816	Silent Mutation	ACA,ACG	T94T	XP_006719866.1
XM_006719805.3	816	Silent Mutation	ACA,ACG	T94T	XP_006719868.1
XM_006719806.3	816	Silent Mutation	ACA,ACG	T94T	XP_006719869.1
XM_011535046.2	816	Intron			XP_011533348.1
XM_011535047.2	816	Silent Mutation	ACA,ACG	T94T	XP_011533349.1
XM_017020544.1	816	Silent Mutation	ACA,ACG	T94T	XP_016876033.1
XM_017020545.1	816	Silent Mutation	ACA,ACG	T94T	XP_016876034.1
XM_017020546.1	816	Intron			XP_016876035.1

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