Product Details

SNP ID

rs61997235

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30662568 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATCCTGCCCCACAGCCTCGGGCC[C/A]CCACGGCGCCTTCAATGGGAACTGT

Phenotype

MIM: 608601

Polymorphism

C/A, Transversion substitution

Allele Nomenclature

Literature Links

FBRS PubMed Links

Gene Details

Gene

FBRS

Gene Name

fibrosin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001105079.2	2141	Missense Mutation	CAC,CCC	H255P	NP_001098549.2
XM_011545916.2	2141	Missense Mutation	CAC,CCC	H255P	XP_011544218.1
XM_011545917.2	2141	Missense Mutation	CAC,CCC	H245P	XP_011544219.1
XM_011545919.2	2141	Missense Mutation	CAC,CCC	H233P	XP_011544221.1

Gene

PRR14

Gene Name

proline rich 14

There are no transcripts associated with this gene.

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