Product Details

SNP ID

rs78892911

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:65580174 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTGTCCAAGTCCCAGTGAGGCTG[T/C]GGCTGAAGCCAAAGTCAGTGAAGGT

Phenotype

MIM: 616128 MIM: 606044

Polymorphism

T/C, Transition substitution

Allele Nomenclature

Literature Links

EHBP1L1 PubMed Links

Gene Details

Gene

EHBP1L1

Gene Name

EH domain binding protein 1 like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099409.1	674	Missense Mutation	CGG,TGG	R136W	NP_001092879.1
XM_005273867.3	674	Missense Mutation	CGG,TGG	R136W	XP_005273924.1
XM_005273868.3	674	Missense Mutation	CGG,TGG	R136W	XP_005273925.1
XM_005273869.3	674	Missense Mutation	CGG,TGG	R136W	XP_005273926.1
XM_005273870.3	674	Missense Mutation	CGG,TGG	R136W	XP_005273927.1
XM_006718486.3	674	Missense Mutation	CGG,TGG	R136W	XP_006718549.1
XM_006718487.3	674	Missense Mutation	CGG,TGG	R136W	XP_006718550.1
XM_011544886.2	674	Intron			XP_011543188.1
XM_017017467.1	674	Missense Mutation	CGG,TGG	R103W	XP_016872956.1
XM_017017468.1	674	Missense Mutation	CGG,TGG	R103W	XP_016872957.1
XM_017017469.1	674	Missense Mutation	CGG,TGG	R136W	XP_016872958.1

Gene

FAM89B

Gene Name

family with sequence similarity 89 member B

There are no transcripts associated with this gene.

Gene

SSSCA1

Gene Name

Sjogren syndrome/scleroderma autoantigen 1

There are no transcripts associated with this gene.

Gene

SSSCA1-AS1

Gene Name

SSSCA1 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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