Product Details

SNP ID

rs149642459

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:177457698 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACAGGAGGCGGAGCCTTGGCACA[C/G]AGCTCTTCCGATTGGGCAAACTCCT

Phenotype

MIM: 126660

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DBN1 PubMed Links

Gene Details

Gene

DBN1

Gene Name

drebrin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004395.3	2124	Silent Mutation	CTC,CTG	L612L	NP_004386.2
NM_080881.2	2124	Silent Mutation	CTC,CTG	L614L	NP_543157.1
XM_005265827.3	2124	Silent Mutation	CTC,CTG	L658L	XP_005265884.1
XM_006714826.2	2124	Silent Mutation	CTC,CTG	L595L	XP_006714889.1
XM_011534446.2	2124	Silent Mutation	CTC,CTG	L660L	XP_011532748.1
XM_011534447.2	2124	Silent Mutation	CTC,CTG	L647L	XP_011532749.1
XM_017009139.1	2124	Silent Mutation	CTC,CTG	L660L	XP_016864628.1
XM_017009140.1	2124	Silent Mutation	CTC,CTG	L614L	XP_016864629.1

Gene

PRR7

Gene Name

proline rich 7 (synaptic)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001174101.1	2124	Intron			NP_001167572.1
NM_001174102.1	2124	Intron			NP_001167573.1
NM_030567.4	2124	Intron			NP_085044.2
XM_011534662.1	2124	Intron			XP_011532964.1
XM_011534663.2	2124	Intron			XP_011532965.1
XM_017009896.1	2124	Intron			XP_016865385.1
XM_017009897.1	2124	Intron			XP_016865386.1

Gene

PRR7-AS1

Gene Name

PRR7 antisense RNA 1

There are no transcripts associated with this gene.

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