Product Details

SNP ID

rs142749724

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:47627277 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCCTTAGGTTCGTGGGGTCCACC[A/G]TGGCAGGAGGCTGAGCAGGGGGTCC

Phenotype

MIM: 300383 MIM: 311040 MIM: 313440

Polymorphism

A/G, Transition 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	756	Silent Mutation	CAC,CAT	H210H	NP_001138724.1
NM_002621.2	756	Silent Mutation	CAC,CAT	H210H	NP_002612.1
XM_017029575.1	756	Silent Mutation	CAC,CAT	H75H	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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