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MutDB Position: rs11247847
  SNP InfoAnnotation Info
Functional class:coding-nonsynon dbSNP Source: rs11247847
Wild type nucleotide: C
Wild type amino acid: H
Variant nucleotide: A
Variant amino acid: N
Amino acid position: 378
Chromosome strand orientation: forward
Chromosome variant position: 26230242
Protein mrna accession:NM_004455
SIFT Score: (help?) Not scored
Sequence
  This sequence was derived from NCBI entry: NM_004455
MQSWRRRKSLWLALSASWLLLVLLGGFSLLRLALPPRPRPGASQGWPRWLDAELLQSFSQPGELPEDAVS
PPQAPHGGSCNWESCFDTSKCRGDGLKVFVYPAVGTISETHRRILASIEGSRFYTFSPAGACLLLLLSLD
AQTGECSSMPLQWNRGRNHLVLRLHPAPCPRTFQLGQAMVAEASPTVDSFRPGFDVALPFLPEAHPLRGG
APGQLRQHSPQPGVALLALEEERGGWRTADTGSSACPWDGRCEQDPGPGQTQRQETLPNATFCLISGHRP
EAASRFLQALQAGCIPVLLSPRWELPFSEVIDWTKAAIVADERLPLQVLAALQEMSPARVLALRQQTQFL
WDAYFSSVEKVIHTTLEVIQDRIFGTSA [ N -> N ] PSLLWNSPPGALLALSTFSTSPQDFPFYY
LQQGSRPEGRFSALIWVGPPGQPPLKLIQAVAGSQHCAQILVLWSNERPLPSRWPETAVPLTVIDGHRKV
SDRFYPYSTIRTDAILSLDARSSLSTSEVDFAFLVWQSFPERMVGFLTSSHFWDEAHGGWGYTAERTNEF
SMVLTTAAFYHRYYHTLFTHSLPKALRTLADEAPTCVDVLMNFIVAAVTKLPPIKVPYGKQRQEAAPLAP
GGPGPRPKPPAPAPDCINQIAAAFGHMPLLSSRLRLDPVLFKDPVSVQRKKYRSLEKP
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