Product Details

SNP ID

rs132630260

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:47627290 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGGGTCCACCGTGGCAGGAGGCT[C/G]AGCAGGGGGTCCAGGGGCCCCAGGT

Phenotype

MIM: 300383 MIM: 311040 MIM: 313440

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CFP PubMed Links

Gene Details

Gene

CFP

Gene Name

complement factor properdin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145252.1	743	Nonsense Mutation	TCA,TGA	S206*	NP_001138724.1
NM_002621.2	743	Nonsense Mutation	TCA,TGA	S206*	NP_002612.1
XM_017029575.1	743	Nonsense Mutation	TCA,TGA	S71*	XP_016885064.1

Gene

ELK1

Gene Name

ELK1, ETS transcription factor

There are no transcripts associated with this gene.

Gene

SYN1

Gene Name

synapsin I

There are no transcripts associated with this gene.

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